GENERAL PHYSICAL EXAMINATION

“Slender fingers are a great advantage alike to

pick-pockets, piano players, and percussors”
- Sir Robert Hutchinson
1. Essentials: Physical examination lies at the cornerstone of an elaborate and
optimum history-taking in children. It consists of a focussed head-to-toe
examination with special importance being imparted to the system probably
inferred to be affected predominantly as per the history taken. It requires an
optimum coordination among all the five senses (sight, hearing, smell, touch)
and cognitive domain of the physician to reach a successful conclusion.
2. Scheme of examination: Physical examination should ideally be done in
the following sequence:
Table 1: Scheme of general physical examination
1. General appearance Attitude, posture, build and nourishment,
consciousness, and alertness, comfortable or
restless or toxic, any indwelling catheters
(e.g.: intravenous line, chest-tube, urinary
catheter, Ryle’s tube)
2. Vital signs Temperature, pulse rate, respiratory rate,
blood pressure
3. Cardinal signs Pallor, icterus, clubbing, cyanosis,
lymphadenopathy, oedema
4. Anthropometry Weight for age, Height for age, Weight for
height, head circumference, Mid-upper arm
circumference
5. Developmental Developmental Quotient (DQ) calculation
examination
6. Sexual maturity rating Tanner staging for girls and boys
(SMR)

7. Head-to-toe examination Skull, facies, eyes, ears, nose, oral cavity,

genetalia, skin, nails, hair, spine, joints
8. Systemic examination Focussed examination- Respiratory system,
cardiovascular system, central nervous
system, abdomen
9. Summary Recap of positive findings
10. Differential diagnosis Forming a provisional differential diagnosis
 3. Pre-requisites: Physical examination warrants the use of a tool-kit of various
sizes adjusted for the paediatric population. It should contain:
a) Non-stretchable tape
b) Face-mask
c) Stethoscope
d) Sphygmomanometer
e) Weighing machine
f) Infantometer/stadiometer (for measuring length/height)
g) Otoscope/Ophthalmoscope
h) Pen-torch light
i) Ruler
j) Tongue-depressor/spatula
k) Tanner staging/SMR charts
l) Toys
Fig 1: Various instruments used during physical examination (pic
courtesy: AIIMS Kalyani OPD)

4. Place: The child should always be examined in a well-lighted, warm, and

colourful setting with warm hands. In cases of stranger anxiety, (s)he should be
distracted with vibrant toys/cartoons/images. Jaundice and cyanosis should be
examined for under clear daylight.
 The following positions are recommended to ensure maximum co-operation
and success-rate while examining children across different age groups:

Table 2: Various age-wise positions for physical examination

Age-group Position
0-3 months Examination table
3 months-1 year Mother’s lap
1-3 years Standing or mother’s lap
After 3 years Supine on examination table
Adolescent girl In presence of her mother/female nurse

5. Overview: The examination or assessment which requires fiddling with the

child physically like percussion, testing sensations, throat and rectal
examination should always be attempted at the last. As much information as
possible should be gathered while the child is comfortable and playful in the
mother’s lap. Compassion, empathy, patience, gentleness, and tender loving
care should be few of the astute qualities of paediatricians.
Inability to obtain consent is mostly due to an unskilled approach of the
paediatrician- such as undue undressing or making the child go through a
traumatic experience/process at the beginning of the examination.

GENERAL APPEARANCE
The general appearance gives the best idea about the current physiological state and
well-being of the child. Attention should be particularly made towards the level of
consciousness, mental state (euphoric, dull, etc), speech output, attitude, and posture
(bed-ridden, opisthotonos, orthopneic, platypneic, etc), build and nutrition (evidence
of malnutrition), any peculiar odour (in various poisonings and intoxications),
abnormal movements (chorea, athetosis, tremors, etc), typical facies and nature of cry
of the child (high-pitched, inconsolable, cat-like cry, etc).

1. CONSCIOUSNESS: Consciousness is defined as a person’s own realisation of

his self and surroundings. Table 3 denotes the various stages of altered level of
consciousness:
Table 3: Various levels of consciousness:
Level of consciousness Description of level of consciousness
Awake Alert, responds immediately and fully to commands-
may or may not be fully oriented
Confused The inability to think rapidly and clearly. There is
impaired judgment and decision making
Disoriented This is the beginning of loss of consciousness. There is
disorientation in place, impaired memory, and a loss of
recognition of self which is the last to deteriorate.
Lethargic Drowsy, sleeps a lot, but is easily aroused with minimal
stimuli, i.e., voice, and then responds, but may not be
oriented in time, place, or person.
Obtundation Can be aroused by stimuli (not pain), i.e., shaking, and
will then respond to questions or commands. Remains
aroused if stimulation is applied, if not will fall asleep,
questions are answered with minimal response. During
the arousal, patient responds but may be confused.
Stupor This is a condition of deep sleep or unresponsiveness.
The patient can only be aroused or caused to make a
motor or verbal response by vigorous and repeated
external stimulation (painful). The response initiated is
often withdrawal or grabbing at stimulus.
Coma There is no motor response to the external environment
or to any stimuli, even deep pain, or suctioning. There is
no arousal to any stimulus. Reflexes may be present,
abnormal movement (posturing) to pain maybe present.

• Paediatric Glasgow Coma Scale (pGCS) is a reliable and objective tool to

ascertain the neurological status of an individual. Values are calculated
and added across Eye(E), Verbal(V) and Motor(M) domains to get a final
score. The highest possible score is 15 and the lowest possible score is 3
(deep coma). Table 4 shows the various components of the Paediatric
Glasgow Coma Scale:
 Table 4: Paediatric Glasgow Coma Sale (Hamed Elbaih, Adel & Safi, Mohammad.
(2021); Approach to critical ill child. Medicine Science; International Medical Journal.
10. 262-7. 10.)
2. MENTAL STATE: The various mental and emotional states of a child
can be summed up as follows:
a) alert, active and always interested in surroundings (healthy child)
b) always-on-the-go, restless, impulsive, lack of restraint (attention deficit
hyperactivity disorder-ADHD)
c) anhedonic, low mood- childhood depression
d) dull, apathetic, listless, crying episodes, poor appetite- Kwashiorkor
e) calm, voracious appetite, no apathy- Marasmus

3. SPEECH OUTPUT: Disorders of speech can be discussed under the

following headings:

Table 5: Various types of aphasia:

Type of Aphasia Description
Receptive aphasia (Wernicke Inability or difficulty in receiving
aphasia) written or spoken language
Expressive aphasia (Broca Inability or difficulty in expressing
aphasia) self-using written or spoken
language
Global aphasia Inability to receive language or
express self-using written or
spoken language
Receptive aphasia Inability or difficulty in
understanding the spoken word,
which is due to damage to the
Wernicke's speech centre that is
responsible for comprehension of
speech
Expressive aphasia Inability or difficulty in putting
thoughts into words, due to
damage of the Broca's speech
centre. In this case patients can
understand what has been said to
them, but cannot reply with the
right words
Dysarthia Slurred speech
4. ATTITUDE AND POSTURE: Attitude and posture can give a definite
clue about the underlying condition of the child:
Table 6: Different postures associated with medical conditions:
Disease/condition Associated posture
1. Acute severe asthma Bending forwards
2. Congestive cardiac Propped up
failure
3. Cyanotic spell Squatting/ Knee-chest position
4. Liver abscess Right side to decrease movements of liver
5. Pleural effusion (left) Left lateral decubitus (lies on same side so that
lung on the opposite side is not compressed)
6. Pleurisy (left) Same side of pleurisy to decrease movement of
chest
7. Diplegic Cerebral palsy Scissoring of lower limbs due to adductor spasm
8. Hemiplegic cerebral Reduced movements on one side of body with
palsy external rotation of lower limb
9. CNS injury at upper Decorticate rigidity (arms flexed with legs
mid-brain level extended)
10. CNS injury at upper Decerebrate rigidity (upper limbs extended and
pons level internally rotated with lower limbs extended)
11. Tetanus or Strychnine Opisthotonos (bending of body like an arc)
poisoning Pleurothotonos Lateral bending of body)
Emprosthotonos (bending in a backward
direction)
12. Gastro-Oesophageal Arching of the neck in relation to the body
Reflux disease (GERD) (Sandifer syndrome)- can be confused with a
seizure episode

5. BUILD AND NUTRITION: The build and nutrition of a child should

correlate with the diet and nutrition history obtained during history-taking with
the 24-hour recall method. Clinical signs for marasmus, marasmic-kwashiorkor
and kwashiorkor should not missed. Malnutrition included all the three-
Undernutrition, Overnutrition and Hidden hunger (micronutrient deficiencies)
under its umbrella.
Fig 2: A child with marasmic cachexia (image taken with parents’
consent)

The nutritional status can be aptly identified by calculating BMI (Body Mass
Index) of the child and plotting on age-based percentile charts:

BMI = Weight (in kg)

 Height or length (m2)

Table 7: Classification of nutrition status based on BMI:

Nutritional status BMI (kg/m2) for age
Underweight < 5th centile

Normal 5th – 84th centile

Overweight 85th-94th centile

Obese ≥95th centile

Table 8: Nutritional status and its significance:

Status Significance
1. Normal No nutritional/micronutrient deficiency- well
thriving according to age
2. Protein Energy Moderate PEM requires domiciliary
Malnutrition (PEM)-due to management.
deficit in both calories and Severe acute malnutrition requires facility
proteins/predominantly based/In-hospital management for monitoring
protein deficit both disease-based and treatment-based
complications
3. Overweight Proper lifestyle modification should be started
4. Obese High risk of complications like-
Hypertension, Diabetes mellitus,
hyperlipidaemia, Obstructive Sleep
Apnoea.

6. PECULIAR ODOUR: Some of the characteristic odours having association

with specific clinical conditions are (Table 9):
Odour Clinical condition
1. Fruity odour Diabetic Ketoacidosis
2. Garlic odour Organophosphate poisoning
3. Boiled cabbage odour Tyrosinemia (also has rancid butter odour)
4. Cat’s urine odour Multiple carboxylase deficiency
5. Fetor hepaticus Liver cell failure
6. Sweaty feet odour Isovaleric academia
7. Musty odour Phenylketonuria
8. Halitosis Retropharyngeal abscess, Bronchiectasis, Lung abscess,
Tonsillitis
7. TYPICAL CRIES: Some of the notable cries associated with respective clinical
disorders (Table 10):
Cry/Voice Associated Clinical condition
1. High pitched cry Intracranial pathology (meningitis, encephalitis,
Hypoxic Ischemic Encephalopathy)
2. Inconsolable cry Infantile colic, Acute otitis media, meningitis, Urinary
(diagnosed by Rome IV tract infection, GERD, septic arthritis (rare- post
criteria) immunisation, fractures, stings, diaper dermatitis,
burns)
3. Grunting Lobar pneumonia, acute bronchiolitis
4. Cat like cry Cri-du-chat syndrome (deletion of chromosome 5p)
5. Hoarse cry Laryngitis, faucial/laryngeal Diptheria/Congenital
hypothyroidism
6. Cry like bleat of goat Cornelia de Lange syndrome
7. Feeble cry Down syndrome, congenital myopathy,
8. Seagull like cry Edward syndrome (trisomy 18)
9. Masculine cry Precocious puberty
10. Listless cry Kwashiorkor

8. TYPICAL FACIES: Some of the characteristic facial profiles of disease

conditions can be enumerated as follows (table 11):

Facial features Condition/disease

1. Round face, inwards and downwards slant of eyes, Down syndrome
flat occiput, epicanthic folds, protruding tongue
2. Moon face, prominent flushed cheek, buffalo Cushing syndrome
hump
3. Apathetic, listless, crying, irritability Kwashiorkor
4. Expressionless facies Bilateral lower motor neuron facial
nerve palsy (LMN), Moebius syndrome
(VI+VII nerve involvememt)
5. Elfin facies: hypertelorism, upturned nose, low set William-Bruen syndrome
ears, pointed chin, dental defects, wide mouth with
characteristic grin
6. Adenoid facies: open mouth, short upper lip, Adenoid hypertrophy
everted lower lip, pinched out nose with mouth
breathing
7. Potter facies: hypertelorism, depressed nasal Bilateral renal agenesis, Autosomal
bridge, low set posteriorly rotated pinna dominant and Recessive Polycystic
Kidney disease (ADPKD,ARPKD),
Severe Intra-uterine VUR (all leading
to oligohydramnios)
8. Cretin facies: dull look, coarse facial features, Congenital hypothyroidism
bushy eyebrows, thick protruding tongue
9. Haemolytic facies: frontal and parietal bossing Chronic haemolytic anaemia (eg-
Thalassemia)
10.Old man appearance: loss of buccal pad of fat Grade 4 Marasmus
11. Risus sardonicus: down and out pull of corners of Tetanus
mouth, slit like eyes, updrawn eyebrows with a grin
12. Gargoylism: coarse facies, thick lips, depressed Mucopolysaccharidosis
nasal bridge, enlarged tongue, widely separated peg-
like teeth
13. Triangular facies Alagille syndrome
14. Doll like facies Glycogen storage disorder (eg: Von
Gierke disease)

Fig 3: A child with characteristic Down facies (image taken with parents’
consent)
Fig 4: a child with Moebius syndrome (expressionless face)- image taken
with parents’ consent
Fig 5: A child with congenital hypothyroidism facies ((image taken with
parents’ consent)
Fig 6: A child with Potter facies (parrot beak nose, retrognathia,
hypertelorism, low seats)- image taken with parents’ consent

VITALS
Vital signs give the best idea of the optimum physiological state of the human body.
These include- temperature, pulse rate, respiratory rate, blood pressure, Capillary
Refill time (CRT).

1. TEMPERATURE: Rectal temperature gives the best estimate of the core body
temperature (actual temperature of the body). It is advisable to check temperature (by
placing the dorsum of the examiner’s hand) over the neck (peripheries should be
avoided as they are cold and clammy in cold stress or compensated shock-thereby
giving a false low reading inspite of a normal core temperature).
A thermometer is placed snugly either against the axilla (tightly holding the arm
against the chest) or against the groin (by tightly flexing the thigh over the abdomen).
The thermometer should be left ideally for 3-5 minutes (optimally 2 mins) before
reading the temperature. Skin temperature is 0.4℃ (0.7℉) lower than the oral
temperature, while rectal temperature is 0.4℃ (0.7℉) higher than the oral temperature.
Table 12: Oral temperature ranges:
Oral Temperature Grading (℃)
Normal 36.6-37.5
Sub-normal <36.6
Hypothermia <35
Hyperthermia >37.5 (99.5℉)
Hyper-pyrexia >41.1 (106℉)
PEARLS:
a) Sites to measure temperature: Oral cavity (under tongue), axilla, rectum, groin, ear canal,
skin over forehead
b) Thermo-crystal strips use infra-red technology to measure temperature over forehead and
inside ear-canal.
c) Normal children have diurnal variation of temperature-being lowest early morning and
highest in the evening around 4 pm.
d) Mild isolated rise in temperature (up-to 99.9℉) should not be investigated if the child is
alert, active, playful and feeding well.
e) Low reading thermometers (30-40℃) should be used to record temperature in severely
malnourished children (as they are prone for hypothermia).

2. PULSE: Pulse is the wave-form generated by the ejection of blood from the left-
ventricle which in turn traverses to the peripheral arteries. All peripheral pulses should
be ideally palpated (specially during focussed examination of a suspected CVS case).
Lower limb pulses can be absent during coarctation of aorta or vasculitis like
Polyarteritis Nodosa (PAN).
Sites for measuring pulses are- radial, brachial, carotid, femoral, popliteal, dorsalis
pedis, posterior tibial, etc. Radial pulse should be felt with tips of fingers, whereas
carotid pulse is best felt with the thumb (right artery with left thumb at the medial
border of sternocleidomastoid muscle in line with the thyroid cartilage). Pulse found
on one side should always be compared with the other side. Both the carotids should
not be palpated simultaneously as it may put pressure on the baroreceptors of carotid
sinuses and lead to reflex bradycardia and syncope.
Pulse is affected by temperature (each 1℉ rise in temperature raises the Pulse rate by
10 beats/min)
Pulse should be examined under the following headings (details would be described in
the CVS chapter):
a) Rate (best in radial artery)
b) Rhythm (best in radial artery)
c) Character (best in carotid artery)
d) Volume (best in carotid artery)
e) Radio-radio delay or Radio-femoral delay
f) Vessel wall condition and thickening (best in radial artery)
Fig 7: Normal arterial pulse waveform
Fig 8: Different pulse waveforms (picture courtesy: www.rebemem.com)

Table 13: Various pulse types:

Pulse type Associated condition
1. Water-hammer pulse (Corrigan pulse) Aortic regurgitation, A-V fistula, PDA
2. Pulsus parvus et tardus Aortic stenosis
3. Pulsus alternans Left ventricular failure
4. Pulsus paradoxus Pericardial effusion, constrictive
pericarditis, acute severe asthma,
superior vena cava (SVC) obstruction
5. Reverse pulsus paradoxus A-V dissociation
6. Jerky pulse Hypertrophic Obstructive
Cardiomyopathy (HOCM)
7. Pulsus bigeminus Premature ventricular contraction (PVC)
8. Pulsus bisfriens Mild AS with severe AR, severe AR
with HOCM
9. Pulsus dicroticus Low cardiac output states
Table 14: Normal age-wise cut off for pulse rates:
Age Range
<6 months 120-160
6-12 months 110-120
1-5 years 90-110
6-12 years 80-110
>12 years 60-100

3. RESPIRATORY RATE: All Paediatrics residents should carry a wrist watch

with a seconds-hand to calculate the respiratory rate of a child accurately. The
respiratory rate should be counted over a whole 1 minute and the breathing
movements should be observed for a minimum of 10 seconds. The breathing is mostly
after the age of 5 years.
Table 15: Age wise cut-offs for respiratory rate (RR):
Age Normal RR Tachypnoea
Upto 2 months 30-50 >60
2-12 months 20-40 >50
1-5 years 20-30 >40
5-10 years 15-20 >30
>10 years 12-18 >30

• Tachypnea: RR is increased in:

a) febrile states (increase in 1℉ raises RR by 4 beats/min)
b) anxiety
c) hypoxia, acidosis
d) respiratory causes: pneumonia, pulmonary oedema, asthma

• Bradypnea: RR is decreased in:

a) Alkalosis
b) Hypothyroidism
c) Raised Intra-cranial pressure

4. BLOOD PRESSURE (BP): It is imperative to measure BP ideally in all 4 limbs

(especially during focussed CVS examination).
Pre-requisites: according to the AAP guidelines and 4th joint task force meeting:
a) The child should be made to comfortably relax for 3-5 mins before BP
measurement.
b) The BP should be checked in the right arm, with the arm being at the heart’s level.
c) The length of the BP cuff should be 80-100% of the arm-circumference, width
being at least 40% located 2-3 cm above the ante-cubital fossa and stethoscope placed
over the brachial artery.

Caveats: a) BP readings obtained during school visits are not recommended to be

used for diagnostic purpose.
b) Oscillometric devices are used as screening tools and all “elevated” BP recordings
need confirmation with auscultatory BP readings (which is the best measure of target
organ damage).
c) If an initial BP is in the “elevated” range, two additional readings should be taken
in the same visit and averaged to find the final BP.

Table 16: New definition of Hypertension in children and adolescents:

BP classification Children (1-12 yrs) Children (≥ 13yrs) Action
(Percentile based) (mm Hg based)
Normotensive < 90 centile <120/<80 No additional
action needed
Elevated th th 120/<80 to Lifestyle
≥ 90 to <95
(Previously Pre- centile or 120/80 129/<80 mmHg modification and
hypertension) mmHg to < 95th repeat BP after 6
centile (whichever months
is lower)
Stage 1 ≥ 95th centile to 130/80 to 139/89 If asymptomatic-
hypertension th mmHg Lifestyle
<95 centile+12
mmHg or 130/80 modification and
to 139/89 mmHg repeat BP in 1-2
(whichever is weeks by
lower) auscultation.
Stage 2 th If asymptomatic,
≥ 95 centile+12 ≥140/90 mm Hg
hypertension mm Hg or UL/LL BP should
≥140/90 mm Hg be checked,
lifestyle
 (whichever is modification
lower) initiated and BP is
re-checked after 1
week. ABPM
should be ordered
as soon as possible
in such cases with
diagnostic
evaluation for
hypertension.
White coat Office BP ≥ 95th centile but ambulatory BP <95th centile with less
hypertension than 25% BP load
Masked Office BP < 95th centile but ambulatory BP ≥95th centile with more
hypertension than 25% BP load

• ABPM ( AMBULATORY BP MONITORING): ABPM should be

performed in children more than 5 years of age for confirmation of
hypertension if the BP is the “elevated” range for more than 1 year or with
stage 1 hypertension in three clinical visits. ABPM is indicated regularly in:
a) Chronic kidney disease
b) Secondary hypertension
c) Type 1 or 2 Diabetes Mellitus
d) Obstructive Sleep Apnea Syndrome (OSAS)
e) History of prematurity
f) Solid-organ transplant patients
g) Post coarctation repair

• TECHNIQUES TO MEASURE BP:

a) Auscultatory method (by using a sphygmomanometer): The cuff of the

sphygmomanometer is tied in the arm and inflated to about 20-30 mmHg above
the level where the radial pulse disappears. Now the cuff is deflated. Auscultate
the Korotkoff sounds over the brachial artery in the cubital fossa. For the lower
limb, the stethoscope should be placed on the popliteal artery. The point at
which the first Korotkoff sounds are heard is the systolic blood pressure (SBP).
AS the cuff is further deflated, the Korotkoff sounds get muffled and then
disappear. The point at which the sound start muffling (not disappear) is the
diastolic blood pressure (DBP).
Fig 9: Measuring BP by auscultatory method- image taken with
parents’ consent

b) Palpatory method: Feel the radial pulse while the cuff is being deflated.
The point at which the radial pulse reappears is the systolic pressure.
Fig 10: Measuring BP by palpatory method- image taken with
parents’ consent

c) Flush method: This method is used in new-borns and infants to measure the
SBP. The limb is raised and held for some time. The cuff should be wrapped
around the ankle or wrist. Now inflate the cuff of the sphygmomanometer
above the expected SBP. There will be blanching of the limb and it becomes
pale. Now, the arm is brought down and gradually the cuff is deflated till the
limb becomes flushed again. The point at which there is flushing of the limb
indicates the systolic blood pressure.

d) Oscillometric method: With every arterial pulse wave there is a small rise
and fall in the volume of the limb, which in turn causes an increase and then a
decrease in the pressure within the encircling cuff, which can be detected using
a solid-state transducer. When the cuff encircling a limb is inflated with an
electronic pump (or sometimes manually), the rising pressure in the cuff
eventually stops arterial blood flowing into the underlying limb and pulsation
ceases. This is detected by the machine which continues to inflate the cuff for a
second or two more to ensure that the limb flow has stopped completely. At
this point, inflation stops, and a valve opens allowing the pressure in the cuff to
reduce slowly. The pressure within the cuff is monitored carefully by the
machine. At first it only detects the pulseless reduction in pressure. As the
pressure in the cuff falls to below the pressure of the peak of the arterial pulse,
the machine begins to detect a small pressure wave which reflects the
difference between the pressure in the cuff and that in the artery. With further
cuff deflation these pressure differences become greater until the cuff begins to
fall away from the limb and less of the volume pulsation is detected. The
machine therefore records within it a series of pulse waves, which are initially
flat, then very slight, then increase to a peak and then diminish until they are
hardly detected.
Fig 11 (A and B): Oscillometric BP measurement principle ( Lewis, P.S., on behalf of the
British and Irish Hypertension Society’s Blood Pressure Measurement Working Party.
Oscillometric measurement of blood pressure: a simplified explanation. A technical note on
behalf of the British and Irish Hypertension Society. J Hum Hypertens 33, 349–351;2019)

(A)

(B)
• Formulae to Calculate the Expected Blood Pressure in Children : The
following formulae are devised to appropriately calculate the 50th
percentile of systolic and diastolic blood pressures in children older than 1
year:
Systolic blood pressure = 90 + (2x age in years)
Diastolic blood pressure =55 + (2x age in years) or 60+ (age in years)
Lower limit of systolic blood pressure (fifth percentile) = 70 + 2x (age in
years)

Age-wise cut-offs to determine hypotension in a setting without ICU

facility according to Surviving Sepsis Campaign guidelines:

Age less than 1 year: SBP <50 mm Hg

Age 1-5 years: SBP <60 mm Hg
Age > 5 years: SBP <70 mm Hg
OR
Presence of all 3 WHO criteria: cold extremities, capillary refill time>3
seconds, weak/fast pulse

• PULSE PRESSURE: Pulse pressure is the difference between the systolic

and the diastolic blood pressures. The normal range of pulse pressure is 30-60
mmHg. A narrow pulse pressure is seen in aortic stenosis and mitral stenosis. A
wide pulse pressure is seen in patients with PDA and aortic regurgitation.
• PULSE DEFICIT: Pulse deficit is a clinical sign where-in, one is able to
find a difference in count between heart beat (Apical beat or Heart sounds)
and peripheral pulse (radial artery pulse). This occurs even as the heart
is contracting, the pulse is not reaching the periphery. Both the radial pulse and
the apex beat should be palpated simultaneously for 1 min and the difference is
then calculated. This can occur in few clinical situations:
1. Atrial fibrillation.
2. Very early diastolic ventricular ectopic beats
3. Some patients with Pacemaker.

• MEAN ARTERIAL PRESSURE (MAP): Mean arterial pressure is the

product of the cardiac output and total peripheral resistance. The normal value
of mean arterial pressure is 100 mmHg.
Mean arterial = diastolic + 1/3 of pulse pressure
5. CAPILLARY REFILL TIME (CRT): Capillary refill time (CRT) is a simple
and quick test requiring minimal equipment or time to perform. Prolonged CRT is a
‘red flag’ feature, identifying children with increased risk of significant morbidity or
mortality in relation to impending shock.
Recommended measurement method for CRT in children:
• Use the finger (sternum in case of neonates) as the preferred measurement site.
• Press for 5 seconds using moderate pressure.
• Ideally, measure at room temperature (20–25°C) irrespective of the child’s
body temperature. Allow time for skin temperature to acclimatise if the child
has recently been moved from a warmer or colder environment.
• Use a timer (for example, a watch) to count the seconds it takes for the finger
to regain its original colour.
• An abnormal CRT in infants and children over 7 days of age is 3 seconds or
more; a normal CRT is 2 seconds or less. A CRT measurement of between 2
and 3 seconds may be considered ‘borderline abnormal’, but some healthy
children may have CRT as long as 2.5 seconds.
• Record measurements using the actual number of seconds (for example, ‘4
seconds’ or ‘2 seconds or less’) rather than using terms such as ‘prolonged’ or
mathematical symbols.

Fig 12: Measuring Capillary Refill Time (image taken with consent of
parents)
CARDINAL SIGNS

1. PALLOR: Pallor can be checked (in natural light) in lower palpebral conjunctiva,
dorsum of tongue, skin, palmar creases, and nail bed.
Mild pallor: Pallor of conjunctiva and/or mucous membranes
Moderate pallor: Some pallor+ pallor of skin
Severe pallor: Moderate pallor+ pallor of palmar creases

2. JAUNDICE/ICTERUS: Jaundice is checked (under natural bright light) in the

sclera (due to high elastin content), forehead, soft-palate, under surface of tongue, nail
bed, anterior chest (in babies) and palms and soles.
The colour of the stools and urine should always be checked/asked while evaluating a
case of jaundice. High coloured urine with diaper staining and non-pigmented stools is
always a sinister sign and should point towards obstructive cause of jaundice (e.g.,
Biliary atresia, choledochal cyst). Other causes of jaundice include haemolytic
jaundice (e.g., hemoglobinopathies like Sickle cell disease, G6PD deficiency, etc) and
hepatocellular jaundice (Hepatitis B, C, drug induced liver injury, etc). Hemolytic
causes give rise to a pale or lemon yellow tinge to the eyes, hepatocellular causes to a
orange-yellow tinge and obstructive causes lead to a dark yellow or yellow ochre
tinge.
Jaundice in a neonate can be physiological when it appears at 24-48 hours of age due
to increased enterohepatic circulation, poorly developed conjugating system
(UGT1A1 enzyme which converts unconjugated to conjugated bilirubin in the biliary
canaliculi) and shorted life-span of RBCs. Jaundice is considered pathological when:
a) Jaundice in first 24 hours
b) Jaundice on palms and soles
c) Rise in serum bilirubin more than 0.2 mg/dl/hour or more than 5 mg/dl rise
in a single 24 hours
d) Features of bilirubin encephalopathy/kernicterus
e) Direct bilirubin more than 1 mg/dl at any age
f) Bilirubin value more than 95th centile on the age and gestation based charts
g) Icterus present for more than 2 weeks in a term and more than 3 weeks in a preterm
neonate.
3. CYANOSIS: Cyanosis refers to the bluish discoloration of the skin and mucous
membranes. It happens when the deoxygenated haemoglobin in the blood becomes
more than 3-5gm%. The sites at which cyanosis should be checked are: nail bed,
tongue, conjunctiva, lips, oral cavity mucosa, ear lobules. Cyanosis van be central,
peripheral, mixed, or differential. Pathological cyanosis should not be confused with
circumoral cyanosis in new-borns (after feeding and improves spontaneously) and
pseudo-cyanosis (bluish tinge after ingestion of drugs like dapsone, amiodarone).
A) Central cyanosis: Normal value of deoxygenated/ reduced Hb is around 20% of
the total haemoglobin. So, for a reduced Hb concentration of 3 g% in a child with a
total Hb of 15 g%, the amount of O2 saturation drop needed will be = 100- (3/15) i.e.,
80%. Hence in anaemia with a Hb of 10 gm/dl, the desaturation needed will be 100-
(3/10) i.e.,70% (approx.). So, cyanosis may not be picked in an anaemic child unless
the saturation drops to very low values and the child becomes very sick. Causes of
central cyanosis include:
• Cardiac causes: congenital heart diseases like tetralogy of Fallot, truncus
arteriosus, Transposition of Great Arteries (TGA), Eisenmengerisation, Total
anomalous pulmonary venous drainage. It is frequently associated with
polycythaemia due to increased production of erythropoietin in response to
hypoxia.
• Respiratory causes: alveolar hypoventilation (like in acute severe asthma),
foreign body bronchus, parenchymal damage (like interstitial pneumonia),
pulmonary AV shunts like A-V fistula in HHT syndrome
• Abnormal haemoglobins like methemoglobinemia, sulphaemoglobinemia,
carboxyhaemoglobinemia. In comparison to central cyanosis by cardiac cause,
they have no associated symptoms, clubbing is absent, improves with
administration of Vitamin C and methylene blue, and is predisposed by drugs
like dapsone, chloroquine, sulpha drugs, local anaesthetics, naphthalene
intoxication.

Table 17: Difference between cardiac and pulmonary central cyanosis

Cardiac cyanosis Pulmonary cyanosis
Early age at onset Later
Lesser chest retractions More chest retractions
Crying causes aggravation of Crying improves cyanosis
cyanosis
Hyperoxia test (administration of Significant improvement in Po2
100% O2) causes no significant
increase in partial pressure odfO2
(pO2)
Normal or low pCO2 Increased pCO2
 B) Peripheral cyanosis: Peripheral cyanosis is caused by sluggish blood flow in the
peripheries or limbs and occurs due to increased oxygen consumption or extraction at
the level of capillaries compared to the supply reaching the affected limb. The
temperature of the affected limb is always less than the core body temperature.
Common causes include: cold stress in new-borns, peripheral vascular disease like
polyarteritis nodosa (PAN), birth asphyxia (due to redistribution of blood from the
skin to the major vital organs like brain, heart).

Table 18: difference between central and Peripheral cyanosis

CENTRAL CYANOSIS PERIPHERAL CYANOSIS
Caused by increased reduced Caused by sluggish blood flow
haemoglobin >5 gm%
Sites are lips, nail-beds, earlobes etc Site includes tips of fingers and toes, tips
of nose and ear lobules
Involved area is warm Involved area is cold
Warming and cooling has no change Warming improves and cooling worsens
the cyanosis
Clubbing and polycythaemia are They are absent
frequent
Inhaled oxygen/hyperoxia test may Inhaled oxygen/hyperoxia test has no
improve the cyanosis effect on cyanosis

C) Mixed cyanosis: due to effect of both sluggish blood blow and decreased
oxygenation- causes include cardiogenic shock, hypotension, acute pulmonary edema
and congestive cardiac failure.
D) Differential cyanosis: occur when the pre-ductal saturation (right upper limb) is
higher than the post-ductal saturation (lower limb). Causes include Patent ductus
arteriosus (PDA) with reversal of shunt (associated with clubbing too), Persistent
pulmonary hypertension of new-born (PPHN), proximal opening of ductus to the
origin of left subclavian artery.
Reverse differential cyanosis (upper part of body cyanosed whereas lower part is
pink) is seen in PDA+TGA+pulmonary hypertension, PDA+TGA+preductal
coarctation of aorta. They are also associated with clubbing.

4. CLUBBING: Clubbing is the bulbous enlargement of tip of distal phalanx due to

increase in size of the subungual connective tissue matrix. They were first described
by Hippocrates; hence clubbed fingers are known as “serpent’s hand” or “Hippocratic
fingers.” Clubbing can be unilateral (trauma, gout, sarcoidosis) or bilateral (familial,
CVS, respiratory, abdominal and endocrine causes as described later).
• PATHOGENESIS: Aetiopathogenesis of clubbing can be discussed under
various headings:
a) Vasodilation theory: Increased levels of factors like reduced ferritin
(normally destroyed in the lung), estrogen, PGE2, ATP, 5-hydoxy tryptamine,
etc. These factors are generally destroyed or metabolised in the lung, but in
case of A-V malformations or cyanotic heart diseases, blood is bypassed across
the lung leading to increase in systemic levels of these mediators giving rise to
vasodilation and clubbing.
b) Increased connective tissue proliferation: Tumour Necrosis factor (TNF),
Platelet derived growth factor (PDGF) and Hepatocyte growth factor (HGF)
derived from various tumours or tissue hypoxia lead to excessive connective
tissue remodelling.
c) Neurogenic theory: due to aberrant nerve impulses to brainstem.
d) Genetic predisposition: as in Autosomal dominant clubbing across various
generations of a family without any underlying cause.

GRADING OF CLUBBING (TABLE 19):

Grade of clubbing Features

1 Fluctuation of nail bed
2 Obliteration of nail bed angle (Schramroth’s
sign)- normal <165°
3 Parrot beak appearance (increased convexity of
anil fold)
Drum-stick appearance due to thickening of
whole distal finger (Distal phalangeal
depth/Interphalangeal depth ratio >1)

4 Hypertrophic osteoarthropathy (clubbing+painful

thickening of periosteum of radio, ulna, fibula)

• METHOD TO ELICIT CLUBBING: The clubbing usually affects the

thumb and forefinger first. The forefinger is held with both the thumbs of the
examiner. Place both the index fingers on either side near the base of the nail.
Apply pressure with one index finger and the displacement movement is felt by
the other finger of the examiner. In early stage of clubbing, there will be
fluctuation at the base of the nail due to soft tissue proliferation. In normal
children, there will be no fluctuation.
Fig 13: Method to elicit fluctuation (picture courtesy: Bedside clinics
in Surgery by Makhan Lal Saha, 2nd edition, 2012)

Fig 14: Various signs in digital clubbing (picture courtesy: British

Journal of Hospital Medicine; vol 74, No. Sup 11)
 Fig 15: Drumstick appearance of digits in clubbing (image taken with
consent of parents)

• CAUSES OF CLUBBING: Clubbing can be caused by acute (over 2-3

weeks) or chronic (6 months-1 year) causes.
Acute clubbing is seen in lung abscess, infective endocarditis, etc. They are
generally marked by painful clubbing.
Chronic clubbing is seen in:
a) Cyanotic congenital heart diseases like TOF;
b) Respiratory pathology like bronchiectasis, A-V malformations, lung
malignancy;
c)Abdominal disorders like liver cirrhosis, celiac disease, cystic fibrosis,
inflammatory bowel disease (CD>UC); and,
d)Endocrine causes like myxoedema, thyrotoxicosis, etc.

5. LYMPHADENOPATHY (LAD): Lymphadenopathy is defined as swelling of

lymph-nodes due to infection, inflammation, infiltrative or storage disorders,
endocrine causes, drugs, etc.
Generalised LAD occurs due to involvement of more than 2 non-contiguous areas by
a systemic disease (like right cervical and right inguinal group, right and left cervical
group; a contiguous area is one which has the same final efferent drainage-right
cervical and right axillary are contiguous areas). Persistent LAD occurs due to
involvement of more than 3 months duration. Significant LAD is defined as-
A) >1.5 cm for inguinal group of lymph nodes, >1 cm for cervical or axillary group
of lymph nodes, any size of epitrochlear lymph node enlargement.
B) Matted nodes suggestive of lymph node Tuberculosis
C) Nodes which are painful and having sinus/discharge/ulceration
D) Any local sign of infection
E) Associated with systemic signs/symptoms

• Causes of LAD: a) infective and inflammatory causes- bacterial

(Streptococcal, Staphylococcal, typhoid, brucellosis, cat scratch fever,
syphilis); viral- EBV, CMV, HIV, measles, mumps, rubella; fungal-
histoplasma, coccidioidomycosis; protozoal-malaria, toxoplasmosis; parasites-
pediculosis.
b) Connective tissue disorders- SLE, rheumatoid arthritis
c) Granulomatous disorders like sarcoidosis
d) Endocrine causes like hyperthyroidism, Addison disease
e) Drugs- phenytoin, sulphonamides, allopurinol
f) Storge diseases like Gaucher, Niemann-Pick disease
g) Malignancies like ALL, AML, Hodgkin’s, and non-Hodgkin’s, CML, etc.
 Fig 16: Neck lymph node groups (1-submental; 2-submandibular; 3-
jugulodigastric; 4-preauricular; 5-parotid; 6-retroauricular; 7-upper
cervical; 8-middle cervical; 9-lower cervical; 10-posterior triangle; 11-
supraclavicular)
• HOW TO CHECK FOR LYMPHADENOPATHY: The examination of
lymph nodes should include their location, size, number, consistency (soft,
firm, hard, rubbery), tenderness, warmth, whether discrete or matted, and
whether mobile or fixed to the underlying skin. The nodes should be felt with
pulps of index and middle fingers. Matted lymph nodes are classically seen in
TB; discrete firm or rubbery nodes are seen in Hodgkin’s lymphoma. Soft and
tender lymph nodes are found in infectious aetiology. Stony hard nodes are
suggestive of malignancy. Fluctuant nodes are suggestive of underlying
abscess.

Table 20: Method to examine various lymph node groups

Lymph node group Method of examination
Preauricular Palpate by rolling the fingers in front of
the pinna against the maxilla
Postauricular Roll the fingers behind the pinna near the
mastoid
Submental Palpate against the mylohyoid muscle
below the chin area
Sub-mandibular Palpate from behind bimanually in the
submandibular area
Occipital Posterior to mastoid at skull base
Deep Cervical-upper, Beneath the anterior border of
middle, and lower sternocleidomastoid by gently turning the
head to the side of palpation and gradually
rolling the fingers from top to bottom
Axillary (anterior, In front of the patient with the opposite
medial lateral and hand being used to the side of palpation
central) (right hand for left axillary group):
Anterior group against the posterior border
of pectoralis major
Central group deep inside the axilla
Medial group against the lateral chest wall
Lateral group against the medial humerus

Posterior cervical From front of the patient against the

trapezius
Supraclavicular Behind the clavicles standing from behind
Posterior axillary Behind the child with the right side group
felt with the right hand against the
posterior axillary fold
Epitrochlear Partially flexed elbow against the
olecranon
Inguinal Along the inguinal ligament
Popliteal Bimanually with flexed knees
Fig 17: Method of examining various groups of lymph nodes: a)
Anterior axillary; b) Central axillary; c) posterior axillary; d) cervical:
e) supra-clavicular; f) epitrochlear (image taken with consent of
parents)

(a)
 (b)

(c)
(d)
(e)
 (f)

6. EDEMA: Edema is defined as accumulation of fluid under the skin tissues. Edema
can be pitting or non-pitting. To elicit pitting/non-pitting nature of edema, the skin is
pressed against a bony surface (against medial malleolus or shin) for 30 seconds. If
there is no indentation in the skin, it is known as non-pitting edema (e.g.: lymphatic
obstruction, myxoedema). If the indentation persists after removal of pressure, it is
called pitting edema. Pitting edema can be fast (disappears within 30 seconds-due to
low albumin in blood e.g., nephrotic syndrome, protein losing enteropathy, liver
disease, burns) or slow (pitting persists after 1 minute: congestive heart failure,
pericardial disease, venous thrombosis, or insufficiency).

Fig 18: How to elicit oedema against a bony prominence (shin) :image
taken with consent of parents
ANTHROPOMETRY (described in detail in the chapter on
“ANTHROPOMETRY”):
It includes the measurement of various age-dependent parameters (weight for
age, length for age if child <2 years of age or moribund and bed-ridden, height
for age in >2 years of age, head-circumference, chest circumference, arm span,
US: LS ratio) and age-independent parameters (weight for height, Mid-upper
arm circumference, Bangle method, Quack stick method, Jellife’s ratio, Mc
Laren index, Rao and Singh index, BMI, skinfold thickness, etc).

DEVELOPMENTAL EXAMINATION (described in detail in the

chapter on “Growth and Development” ): includes the description on attainment
of various age-wise milestones of a child in gross motor, fine motor, social and
language, adaptive functioning and cognitive domains.

SEXUAL MATURITY STAGING:

• GIRLS: SMR is calculated according to the tanner staging. The order of
pubertal events in an adolescent girl is: thelarche- pubarche-growth spurt-
menarche. Pubic hair is denoted by the prefix “P” (e.g., P1, P2, etc) and
breast development is denoted by the prefix “B” (e.g., B1, B2 etc)

• BOYS: SMR is calculated according to the tanner staging. The order of

pubertal events in an adolescent boy is: Enlargement of testicular volume-
Pubarche- enlargement of penis length-peak growth spurt-deepening of
voice and axillary and facial hair growth. Pubic hair is denoted by the
prefix “P” (e.g., P1, P2, etc) and scrotum and testicular enlargement is
denoted by the prefix “G” (e.g., G1, G2). Prader’s orchidometer is used to
measure the testicular volume.
(PEARL: Stretched penile length less than 2.5 cm at birth or <-2.5 SD
of the mean length of the penis at any age is termed as micropenis. It is
seen in conditions like Down syndrome, Cornelia de Lange syndrome,
Hypopituitarism, GH hormone deficiency, Klinefelter syndrome, Prader-
Willi syndrome)

Fig 19: SMR staging in girls (picture courtesy: BLK centre for child
health, New Delhi: www.blk-pediatric-practice.com)
Fig 20: SMR staging in boys (picture courtesy: BLK centre for child health,

New Delhi; www.blk-pediatric-practice.com)

HEAD TO TOE EXAMINATION

1. SKULL: The skull should be looked for size, shape, symmetry, bossing or
prominences, fontanels, Macewen sign, transillumination test, and abnormal
head movements.
SIZE OF THE HEAD
a) Macrocephaly: It is defined as head-circumference more than 2 standard
deviation above the mean or beyond 97th centile for mean age, sex, race, region,
and population. Macrocephaly can occur due to involvement of the following
structures in the skull:
 • Skull: also called macrocrania (haemolytic anaemia, osteopetrosis or
marble bone disease, achondroplasia, osteogenesis imperfecta).
• Subdural or sub-arachnoid space effusions
• Brain parenchyma (called as megalencephaly): benign familial variant;
increased brain growth syndromes such as Sotos syndrome (cerebral
gigantism), Fragile-X syndrome
• Vessels: vein of Galen malformation, A-V malformation
• Ventricles: hydrocephalus
• Others like neurocutaneous syndromes (TSC, NF, SWS), intracranial
tumours, large arachnoid cysts, hypervitaminosis A, lead poisoning,
metabolic disorders (Tay-sachs, GM1 gangliosidosis, MPS,
mucolipidosis, leukodystrophies like Alexander disease, Canavan
disease), etc.
b) Microcephaly: It is defined as head-circumference less than 3 standard
deviation below the mean for age, sex, region, race, and population.
Microcephaly can be primary (present at birth and congenital) or secondary
(acquired due to post-natal insult to the growing brain).

Fig 21: Baby with microcephaly (image taken with consent of parents)

Table 20: Difference between primary and secondary microcephaly

Primary microcephaly (Genetic) Secondary microcephaly (Non-
genetic)
Onset at birth Evident by the 1st year-due to pre-
natal and postnatal factors.
Receding forehead, occipital Small head in comparison to parents
flattening
 No antecedent cause Prenatal causes like-maternal
malnutrition, alcohol intake, drug
intake, hypothyroidism, infections
play an important role
Causes: AR/AD/X-linked Causes: Congenital infections like:
microcephaly; TORCH infection, Zika virus, HIV
Down syndrome; infection;
Turner syndrome; Post-natal meningitis;
William syndrome; Brain migration defects;
Craniosynostosis syndromes like Birth asphyxia; Neonatal
Apert, Carpenter; hypoglycaemia;
Rubinstein-Taybi syndrome; Syndromes- Rett syndrome, Seckel
Smith-Lemli-Opitz syndrome; syndrome, Angelman syndrome;
Edward syndrome; Congenital hypothyroidism;
Cornelia de Lange syndrome Foetal alcohol syndrome, Foetal
hydantoin syndrome;
Childhood Malnutrition;
IEMs like Phenylketonuria,
Phosphoglycerate kinase deficiency

ABNORMAL SKULL SHAPE

This occurs due to a condition known as craniosynostosis or premature fusion of
the skull sutures. Abnormal shapes of the skull can be classified based on
Cephalic index (Maximum bi-parietal diameter/Maximum occipito-frontal
diameter *100, also known as cranial index or length-width index) into various
types:
Table 21: Various types of skull shapes:
Type of skull Appearance Cephalic Sutures
index involved
(Premature
fusion)
Dolichocephaly or Long cranium <76 Sagittal
scaphocephaly
Mesocephaly Normal 76-80 -
Brachycephaly Short cranium 81-85 Coronal
Turricephaly or Tower-head/ >85 Coronal and
oxycephaly Steeple/turret lambdoid-in
cranium Crouzon and
Pfeiffer
syndrome
Trigonocephaly Keel shaped skull - Metopic-
associated with
hypotelorism
Plagiocephaly • Frontal- - • Coronal
unilateral and
forehead spheno-
flattening with frontal
opposite sutures
parietal buldge

• Occipital- due • Lambdoid

to faulty - sutures
positioning:
ipsilateral
occipital
flattening with
ipsilateral
frontal bulge

Kleeblattschadel Trilobed skull Multiple

deformity like a clover- sutures-
leaf associated
with
Apert,
Carpenter
syndrome
Fig 22: Various skull shapes (a-Normal skull shape with sutures; b-
Trigonocephaly; c-Brachycephaly; d-Frontal plagiocephaly; e-Occipital
plagiocephaly; f- Scaphocephaly)

Fig 23: Various sutures and skull fontanels

FONTANELS:
They are the areas of fibrous tissues found at the junction of two or more
sutures. There are 6 fontanels at birth: Anterior, Posterior, 2 antero-lateral or
sphenoid (junction of temporal and coronal sutures), 2 postero-lateral or
mastoid fontanels (junction of temporal and lambdoid sutures).
a) Anterior fontanel (AF): is a diamond shaped area between the
posteromedial part of frontal bones and anteromedial part of parietal
bones. The average size in infants (measured by lines joining the mid-
points of opposite sides) is 2.1cm*2.1 cm. The usual time of closure of
AF is 9-18 months of age.
Conditions with early closure of anterior fontanel include:
• Craniosynostosis
• Primary microcephaly
Conditions with delayed closure of AF are:
• Achondroplasia
• Congenital hypothyroidism
• Congenital rubella syndrome
• Congenital syphilis
• Down's syndrome
• Hydrocephalus
• Hypophosphatasia
• Cretinism or congenital hypothyroidism
• Intrauterine growth retardation
• Malnutrition
• Mucopolysaccharidoses
• Osteogenesis imperfecta
• Preterm infants
• Progeria (premature aging)
• Pyknodysostosis
• Rickets
• Russell-Silver syndrome
• Skeletal dysplasia
• Syphilis
• Thalassemia major
• Trisomy 13, Trisomy 18
A sunken fontanel is seen is dehydration in infants. A bulging fontanel is an
abnormal finding where the normal pulsations of the fontanel is lost and the
bulge is constant irrespective of posture of the infant. The most common cause
of bulging fontanel in a neonate is intraventricular haemorrhage due to
prematurity. Other common cause of a bulging non-pulsatile fontanel are:
• Meningitis
• Bleeding secondary to whiplash or shaking abuse
• Vitamin D-dependent rickets
• Galactosemia
• Hyperparathyroidism
• Rubella
• Hydrocephalus
• Hypophosphatasia
• Intracranial tumours
• Increased intracranial tension (with intracranial bruit)
• Immunisation- after immunisation with DPT vaccine
• Obstruction of V-P shunt
• Pseudotumor cerebri due to vitamin A poisoning, outdated
tetracyclines, nalidixic acid, dexamethasone, acetazolamide, and
oral glycerol
b) Posterior fontanel (PF): present at the point of fusion of lambdoid and
sagittal sutures. Its size is approx. 0.5-1 cm at birth and closes by 2 months of
age. Pathological delayed closure of AF is seen is down syndrome.

CRANIOTABES: also known as ping-pong skull due to presence of thin

indentable soft areas on the skull surface. It is commonly seen along the suture
lines and may be a physiological finding till 2-3 months of age. Other notable
causes include: Rickets, hydrocephalus, hypervitaminosis A, osteogenesis
imperfecta, congenital syphilis.

MACEWEN SIGN: refers to cracked pot sound on percussion of the skull. It is

seen in hydrocephalus due to separation of sutures resulting from raised
intracranial tension. The amplified sound may be listened with the help of a
stethoscope. It is physiologically present in infancy if the AF is open.
TRANSILLUMINATION TEST: this test is done in a dark room in all infants
below one year of age. A flashlight with a rubber foam cuff is applied over
frontal and occipital areas and the rim of translucency is looked for. When
translucency extends beyond 2-2.5 cm in frontal area and beyond 1 cm in
occipital area it is considered as abnormal and indicative of subdural effusion,
hydrocephalus, hydranencephaly, porencephaly.
ABNORMAL HEAD MOVEMENTS: Head should remain steady after the
attainment of head control at around 3-4 months of age. Any deviation from this
should alert the physician towards a possible pathology: titubation in cerebellar
disorders, de Musset’s sign in AR, head bobbing in respiratory distress, etc.

2. EYES: Spacing between the eyes should be measured by the canthal index
(ratio of distances between the inner and outer canthi of both eyes multiplied by
100) and the inter-pupillary distance (distance between the centre of pupils in
both eyes with the child looking upwards, mean in children being 4 cm).
a) Ocular hypotelorism: canthal index is less than 33. It is seen in
trigonocephalic skulls.
b) Ocular hypertelorism: canthal index is more than 38. It is associated with a
broadened nasal bridge. Some of the syndromes associated include:
• Aarskog syndrome
• Apert syndrome
• Cri-du-chat syndrome
• Crouzon's syndrome
• Down syndrome
• Di George syndrome
• Ehlers-Danlos syndrome
• Foetal hydantoin syndrome
• Noonan's syndrome
• Rubinstein-Taybi syndrome
• Turner's syndrome
• William's syndrome
c) Ptosis: Normally only 2mm of limbus of the cornea is covered by the upper
eyelid in the primary gaze. If it exceeds 2 mm, it is known as ptosis. Unilateral
ptosis is seen in 3rd nerve palsy, Horner syndrome, ocular tumours. Bilateral
ptosis is seen in myasthenia gravis, myotonic dystrophy, congenital myopathies,
etc.

Fig 24: Ptosis in left eye (image taken with parents’ consent)

Fig 25: Ocular myasthenia gravis (image taken with parents’ consent)
d) Eye-lashes and eye-brows: Non-pigmented eyelashes and brows are seen in
Oculo-cutaneous albinism; bushy eyebrows are seen in MPS like Hurler
syndrome; long and curly eyelashes which meet in midline (Synorphis) is seen
in Cornelia de Lange syndrome and Waardenburg syndrome. Long and curly
eyelashes without synorphis is seen in PEM and tuberculosis.
 Other findings which should be looked for during examination of eyelids:
Coloboma; blepharitis; lid retraction-Dalrymple sign, lid lag-Von Graefe’s sign,
lagophthalmos, infrequent blinking-Stellwag’s sign (in hyperthyroidism); any
ectropion or entropion; any xanthomas or xanthelasmas; etc.
e) Short palpebral fissures (between outer and inner canthi) seen in William
syndrome, fetal alcohol syndrome, microphthalmia, etc.
f) Downward and inward slanting palpebral fissures (Mongoloid slant) are seen
in Down syndrome, Prader Willi syndrome, Smith Magenis syndrome.
g) Downward and outward slanting palpebral fissures (Anti-mongoloid slant)
are seen in:
• Alport's syndrome
• Apert syndrome
• Alagille syndrome
• Cri-du-chat syndrome
• Crouzon's syndrome
• Noonan's syndrome
• Pfeiffer's syndrome
• Smith-Lemli-Opitz syndrome
• Treacher-Collins syndrome
• Trisomy 18
• Turner's syndrome
 Fig 26: A child with Noonan syndrome with the characteristic anti-
mongoloid slant (image taken with parents’ consent)
h) Epicanthus (skin fold extending from upper to lower median canthus) is seen
in syndromes such as: Down, Ehlers Danlos, Cornelia de lange, Mobius,
Noonan, trisomy 13, William, Turner, etc.

i) Eyeballs: Proptosis occurs due to either a decrease in orbital volume (A-V

aneurysms, NF, orbital cellulitis, optic nerve sheath tumours, cavernous sinus
thrombosis, thyrotoxicosis, secondaries to the orbit in neuroblastoma etc) or it
can occur due to increase in eyeball size as in glaucoma, retinoblastoma, high
myopia etc. Enophthalmos is seen in Horner syndrome, fractures of orbital
floor, etc.

j) Strabismus (non-parallel visual axes) can be either latent (termed as -phoria)

or it can be manifest (termed as -tropia). It is seen in raised intracranial tension,
GBS, various nerve palsies in CN 3/4/6.

k) Nystagmus is a rapid and rhythmic movement of the eyes across a particular

axis. It can be pendular (amplitude equal in both directions) or jerky (slow
component followed by a corrective fast component-direction of nystagmus is
defined by the direction of fast component).

Nystagmus is graded as 1 (if fast component is on same side as the child looks),
2 (occur when child looks straight), or 3 (fast component of nystagmus is to the
opposite side to which the child loks).

Table 22: Direction of jerky nystagmus in various conditions:

Condition/lesion Direction of nystagmus

Cerebellum Towards the same side of lesion

Labyrinth Opposite side of lesion

Brainstem Rotatory nystagmus

Spinal cord Vertical nystagmus

l) Conjunctiva- evidence of conjunctivitis, pinguecula, Bitot’s spots,

telangiectasias (in ataxia telangiectasia), subconjunctival haemorrhages (in
whooping cough, bleeding or coagulation disorders).

m) Sclera- yellowish in jaundice, bluish in EDS, infantile glaucoma, Marfan

syndrome, osteogenesis imperfecta, Diamond-Blackfan syndrome.

n) Cornea- look for micro- (less than 10 mm corneal diameter)/ macro-(more

than 13 mm corneal diameter) cornea.

Corneal clouding occurs in MPS like Hurler, Morquio, Scheie, Maroteaux-

Lamy and in lysosomal storage disorders like GM1 gangliosidosis,
mannosidosis, mucolipidosis, etc.

The findings which should not be missed- keratitis, corneal opacities, corneal
ulceration, K-F ring (at 6O’clock and 12O’clock position, 90% cases of neuro-
Wilson, 30-50% cases of hepatic Wilson disease), corneal xerosis.

o) Iris- aniridia (WAGR syndrome), heterochromia (Waardenburg syndrome,

Horner syndrome), Lisch nodule (NF-1), brush field spots (Down syndrome),
stellate iris (William syndrome),

p) Pupil: normal pupillary diameter is 3-4 mm at birth. Difference in size of

pupils between two eyes is considered as anisocoria (difference of 1-2 mm is
considered normal if the inequality remains same in light and dark). Pupils start
reacting to light from 31-32 weeks of gestation.

Causes of constricted pupil include poisoning (opiate, OP, barbiturate); Horner

syndrome; pontine haemorrhage; drugs- cholinergic like pilocarpine,
neostigmine; encephalitis; Argyll-Robertson pupil.

Causes of dilated pupil include unilateral causes (Riley-Day syndrome, Foster-

Kennedy syndrome, Holmes-Adie tonic pupil) or bilateral (atropine poisoning,
brain stem stroke, optic nerve atrophy, raised ICP, advanced glaucoma, trans-
tentorial herniation).

Causes of leukocoria or white eye reflex or cat eye reflex include mature
cataract; PHPV; retrolental fibroplasia; retinoblastoma; extensive retinal
detachment; ROP; uveitis from CMV, HSV, toxoplasma; severe vitreous
haemorrhage; endophalmitis.

q) Lens: Dislocations are common in Marfan syndrome (supero-temporal) and

Homocystinuria (infero-nasal).

Cataract should be looked for and evaluated: infections (TORCH); metabolic

causes (galactosemia, Wilson disease, hypocalcaemia, peroxisomal disorders,
PKU); endocrine (cretinism, hypoparathyroidism); chromosomal disorders
(trisomy 13,18,21); trauma; radiation; drugs- corticosteroids,
hypo/hypervitaminosis D, tetracycline; misc.- Alport syndrome, Myotonic
dystrophy.

r) Vitreous- pathology can give rise to a white eye reflex or can present as
floaters (seen in high myopia, RD, vitreous haemorrhage, etc)

s) Fundoscopic examination- to look for chorioretinitis, papilledema, cherry red

spot (in infantile Gaucher, Tay-Sachs, Sandhoff, Niemann-pick disease, MLD,
etc), retinal haemorrhages (in diabetic retinopathy), retinitis pigmentosa
(Laurence Moon Biedl syndrome, Refsum disease, Cockayne syndrome, Usher
syndrome, Bassen-Kornzweig syndrome).

3. NOSE:
a) Appearance: broad and long in Fragile X syndrome; narrow nose with
hypoplastic alae nasi in trisomy 18; beaking of nose in Nijmegen breakage
syndrome, Osteogenesis imperfecta, Rubinstein Taybi syndrome.
b) Nasal bridge- Flat nasal bridge is seen in Carpenter syndrome, William
syndrome, Coffin-Siris syndrome. Saddle nose is seen in patients with
congenital syphilis and Laron syndrome.

Depressed nasal bridge is seen is:

• Hemoglobinopathy like thalassemia major

• Osteopetrosis
• Conradi syndrome
• Down's syndrome
• Ectodermal dysplasia
• Familial (in normal children)
• Hurler's syndrome-mucopolysaccharidosis
• Hypothyroidism or cretinism.
• Infections-congenital syphilis

c) Philtrum is the area between the columella and the upper lip. Short philtrum
is seen in Di-Gorge syndrome. Long philtrum is seen in fetal alcohol syndrome,
fetal hydantoin syndrome, William syndrome, Cornelia de Lange syndrome.

Fig 27: A child with Fetal alcohol syndrome (image taken with parents’
consent)
d) Others- look for any discharge from nostrils, foreign body, haemorrhages
from Little’s area, deviated nasal septum, snuffles (in early congenital syphilis),
flaring of alae nasi (accessory muscles in infants during respiratory distress).

4. EARS: Ears should be looked for the following:

• Pre-auricular sinuses (remnants of branchial cleft)
• Anotia (complete absence of pinna) as in Goldenhar syndrome (also has
pre-auricular skin tags and microtia)
• Everted and protruding ears (more than 2 cm from sides of head)-
corrected by non-surgical (Earwell system) or surgical (Davis
procedure)
• Deformed pinna in Treacher-Collins syndrome (also has microtia),
Down syndrome
• Macrotia in Fragile X syndrome
• Low-set ears (when less than 1/3rd of pinna lies above line extending
from lateral canthus, parallel to floor): seen in Down syndrome, MPS,
fetal hydantoin syndrome, Turner syndrome, Noonan syndrome, Potter
facies, Pierre-robin sequence, Cri-du chat syndrome, trisomy 13 and 18,
Cornelia de lange syndrome.
• Otoscopic examination: ear canal runs upwards in new-borns and
infants while it is downwards and forwards in older children. To
visualise the tympanic membrane, pinna is pulled back in older children
and downwards and laterally in young infants. Look for secretions,
foreign body, tympanic membrane colour, bulging, cone of light and
 perforation. Loss of cone of light suggests inflammation of the
tympanic membrane.

Fig 28: Dysplastic ears in Down syndrome (image taken with

parents’ consent)

5. MOUTH: Normally edges of mouth lies on a perpendicular line dropped

down from either pupil. If the edges fall within this line, it is called microstomia
(seen in whistling face syndrome, Pierre robin sequence). If they fall outside, it
is called macrostomia (seen in IDM).

• Look for angular stomatitis/perleche (fissured angles of mouth,B2

deficiency), cheilitis (cracked and dry lips,B2 deficiency), rhagades
(radiant white scars at angles of mouth due to persistent nasal discharge
in congenital syphilis).
• Lips- blue in cyanosis, dry in severe dehydration, cheilosis (in B2
deficiency, nicotinic acid deficiency, cold stress)
• Oral cavity/buccal mucosa: Koplik spots (pin-head sized white spots
with a red margin opposite 1st lower molar) in prodromal stage of
 measles; aphthous ulcers over gums, tongue, ventral surface of tongue
in herpetic infections; oral thrush in Candida infection; brown-black
pigmentation in Peutz-Jeghers syndrome/Addison disease; enanthems
in chicken pox; traumatic ulcers due to sharp jagged tooth; redness
around Stenson duct opening opposite to second upper molars in
mumps.
• Teeth and gums: a) Colour of teeth (red in porphyria, bluish grey in
tetracycline usage, green in neonatal jaundice, chalky white in
fluorosis, brownish in dentigenesis imperfecta, black with iron tablets).
b) improper dental alignment (malocclusion) in thumb-sucking.
c) teeth are absent in ectodermal dysplasia
d) natal teeth: teeth present at birth, fall off in 1st few days
e) look for stigmata of congenital syphilis: mulberry molars and
Hutchinson incisors
f) caries teeth-predispose to infective endocarditis
g) enamel defects in hypocalcaemic rickets; pulp defects with dental
abscesses in hypophosphatemic rickets
h) delayed dentition (after 12-13 months): in hypothyroidism, Down
syndrome, PEM, rickets, hypo-pitutarism
i) Gum hypertrophy should be suspected for in: Drug induced
(Phenytoin, nifedipine), scurvy, AML-M4, AML-M5, hunter
syndrome, hurler syndrome.
j) blue line in lead poisoning (Burton line); hyperpigmentation in
hemochromatosis
• Tongue: The colour, size, appearance, and movement of the tongue
should be noted.
a) Macroglossia is seen in MPS; GSD like Von Gierke and Pompe;
lymphangioma of tongue; hypothyroidism; Down syndrome (relative
due to protrusion).
b) Microglossia is seen in XII nerve palsy.
c) colour- pale in anaemia; beefy red and swollen in pellagra and B12
deficiency; smooth and red in pernicious anaemia; strawberry tongue
(white inflamed fungiform papillae on red background) in scarlet fever,
Kawasaki disease and toxic shock syndrome; magenta tongue in
riboflavin deficiency; blue tongue in cyanotic heart disease.
d) Appearance: Look for migratory glossitis or geographic tongue
(areas of loss and regeneration of filiform papillae); bald tongue (total
loss of papillae) in vitamin B complex deficiency; coated tongue in
typhoid fever.
 e) Frenulum: look for tongue tie or ankyloglossia (tongue is attached to
floor of mouth by a frenulum-must resected by 1-2 months of age if it
produces difficulty in feeding)
f) Movements of tongue: to be seen in the tongue after protrusion and
moving in from side to side (deviated to the same side of lesion in
LMN C.N. XII palsy and deviated to the paralysed body side in case of
hemiplegia); look for Jack-in-the- box phenomenon and lizard tongue
(unsteadiness of the tongue in rheumatic chorea).

Fig 29: Geographic tongue (image taken with parents’ consent)

• Palate: a) Look for high arched palate (uvula/soft palate is not

visualised by the examiner on opening the mouth and looking straight)-
seen in Down syndrome, Marfan syndrome, Turner syndrome, Cornelia
de Lange syndrome.
b) Both hard and soft palate should be palpated to see for any clefts
being present. Conditions with cleft palate are:
1) Apert syndrome
2)Cornelia de Lange syndrome
3) Drugs-diphenyl hydantoin
4) Pierre-Robin syndrome
5) Di-Gorge syndrome
 c) Both cleft lip and palate are seen in: Meckel- Gruber syndrome,
trisomy 13, drugs-androgens, barbiturates and diazepam.
d) Gag reflex: to look for movement of soft palate: absent in disorders
of the nerves involved in forming the pharyngeal plexus.

• Jaw: a) look for prognathism (lower jaw protrudes the upper jaw) or
retrognathia (upper jaw protrudes the lower jaw).

b) Micrognathia is defined as small jaw and it leads to dental

malocclusion and cleft palate due to the pressure of falling back of
tongue. It is seen in:
1) Cri-du-chat syndrome
2)Foetal alcohol syndrome
3)4Pierre-Robin syndrome
4) Rubinstein-Taybi syndrome
5)Russell-Silver syndrome
6)Treacher-Collins syndrome
7)Trisomy 13 and 18

c) Trismus is inability to open the jaw; it is seen in brain tumours,

drugs-phenothiazine toxicity, encephalitis, neuronopathic Gaucher's
disease, Hypoparathyroidism (primary), infections-tetanus, jaw
tumours such as rhabdomyosarcoma, Risus sardonicus.

6. THROAT: a) Tonsillar pillars should be looked for evidence of any

membrane adherent to it (in faucial Diptheria, Candida infection, Streptococcal
infection, Herpangina).

b) Larynx is to be checked by direct and indirect laryngoscopy in case of any

hoarseness of voice.

7. NECK: The neck should be examined for the following:

• Length of the neck (normally height is 13 times the distance between
occipital protuberance and C1; when the ratio is 14 or more, it is
termed as short neck (Down's syndrome, Hypothyroidism, Klippel-Feil
deformity, Klinefelter, Noonan, Turner); long neck in Marfan,
Williams syndrome.
• Webbing of neck (seen in Meckel-gruber, Turner, Noonan syndrome)

• Swellings (branchial cysts, lymph nodes, thyroid enlargement, cystic

hygroma-transluminant, boggy, compressible swelling, thyroglossal
cysts)

• Sinuses (branchial sinuses, draining cold abscesses)

• Torticollis (traumatic delivery causing sternocleidomastoid hematoma,

hemi-vertebra, lateral rectus palsy)

• Neck rigidity (sign of meningeal irritation)

• Jugular venous pressure (JVP) and Hepatojugular reflex-described in

detail in the CVS chapter

• Position of trachea (shifted to the same side in collapse, shifted to

opposite side in pneumothorax, pleural effusion, foreign body)

• Laxity of skin (EDS, Down syndrome)

• Hairline (normally at the level of C4 in children; low in Turner

syndrome, Cornelia de Lange syndrome)
Fig 30: Thyromegaly in a child with hypothyroidism (image taken
with parents’ consent)

Fig 31: A child with short stature, low posterior hairline and
karyotype proven Turner syndrome (image taken with parents’
consent)
8. CHEST: The chest encompasses the thorax. The chest should be looked
for:

a) any asymmetry (as seen in respiratory pathology like collapse, effusion)- to

be examined both from front and back of chest. Any kyphosis/scoliosis should
be noted. Absent clavicle is seen is cleido-cranial dysplasia.

Fig 32: A child with cleido-cranial dysplasia (image taken with parents’
consent)

b) Any deformity like pectus carinatum or pigeon chest (Noonan syndrome),

pectus excavatum or funnel chest (Marfan syndrome, rickets), bell shaped chest
(Ellis van Creveld syndrome)

c) Absent pectoralis muscle in Poland syndrome; Super-numerary nipples;

widely spaced (inter-nipple distance more than 25% of chest circumference);
rachitic rosary (non-tender and rounded beading of costo-chondral junctions);
scorbutic rosary (tender and angulated beading of costo-chondral junctions);
Harrison sulcus (sub-costal grove due to constant pulling of soft ribs by the
diaphragm in rickets.

d) Palpate the sternum in blood borne malignancies to look for tenderness.

e) Gynaecomastia- breast enlargement in males due to

• Imbalance between testosterone and estrogen like testicular atrophy in

Klinefelter syndrome, Kallman syndrome, androgen insensitivity
syndrome
• Drugs like Digitalis, spironolactone, cimetidine, ranitidine, anabolic
steroids, estrogen herbal preparations;
• HCG secreting tumours;
• Chronic diseases like CKD, CLD;
• Endocrine causes like thyrotoxicosis, acromegaly.

Fig 33: Gynaecomastia (image taken with parents’ consent)

9. UPPER LIMBS: a) Look for trident hand (short and stubby hands with
increased gap between middle and ring fingers) and rhizomelic shortening of
limbs in achondroplasia; absent radius (TAR syndrome, Holt-Oram syndrome,
Fanconi anemia).
Fig 34: A child with achondroplasia showing rhizomelic shortening of limbs
(image taken with parents’ consent)

b) Wrist widening in rickets

c) Palmar erythema and Duyuptren’s contracture in liver failure.

d) increased carrying angle (cubitus valgus in Turner syndrome)

e) Testing for all DTRs and cutaneous sensations.

f) Look for polydactyly (more than 5 fingers in hand)- associated with the
following syndromes:

• Laurence-Moon-Biedl syndrome
• Turner syndrome
• Carpenter syndrome
• Ellis-van Creveld syndrome
• Trisomy 13
• Rubinstein-Taybi syndrome

g) Look for syndactyly: when there is fusion or webbing of 2 or more digits:

seen in Apert syndrome; Holt-Oram syndrome; Trisomy 13,18,21; Fetal
hydantoin syndrome; Laurence-Moon-Biedl syndrome; Fanconi syndrome.

h) Arachnodactyly: fingers are abnormally long and thin; seen in Marfan

syndrome, homocystinuria; hypopituitarism.
i) wrist and thumb sign are checked in Marfan syndrome (PIC).

j) Clinodactyly: refers to curved little finger and associated with Down

syndrome, Cornelia de lange syndrome. It can also be found as a normal variant.

k) Camptodactyly: It is the congenital antero-posterior bending of fingers at the

MCP and IP joints of the fingers (usually the little finger, tender and marked by
fibrosis in the joints); seen in Marfan syndrome, Jacobsen syndrome, Beals
syndrome; Weaver-Smith syndrome.

l) Absence of digits (aplasia) is seen in Fanconi anemia and Holt-Oram

syndrome.

10. DERMATOGLYPHICS: Skin ridges are formed between 4 weeks-4

months of gestational age. Fingerprint pattern consists of arches, whorls, and
loops.

Fig 35: Various types of finger-print patterns

The proximal tri-radius is found close to the wrist and is designated as “t”,
while the distal tri-radii are denoted by “a”, “b”, “c” and “d” in the index,
middle, ring anf little fingers respectively. The angle formed by “a”, “t” and “d”
is known as ‘atd’ angle. Normal ‘atd’ angle is 40-45°.

Fig 36: ‘atd’ angle in Dermatoglyphics

Some of the characteristic dermatoglyphics associated with various syndromes

can be summed up as follows:

Disease/Syndrome Characteristic Dermatoglyphic pattern

Trisomy 21 Simian crease (single palmar crease)

Sydney line (proximal transverse palmar crease

running across palm)

Kennedy crease (deep sole crease between 1st and 2nd

toes)

Increased “atd” angle (PIC)

Ulnar loops on most fingers

 Turner syndrome Predominance of whorls

Klinefelter Marked reduction in ridge count

syndrome

Trisomy 18 Marked increase in arches; single transverse palmar

crease

Noonan syndrome Increased whorls, single transverse palmar crease

Trisomy 13 Excess arches; simian crease; increased “atd” angle

Congenital rubella Increase in whorls

syndrome

11. LOWER LIMBS: a) Lower limbs should be checked for inter-condylar

and inter-malleolar distance. Inter-condylar distance is increased in genu varum
(bow-legs, more than 6 cm is significant) and inter-malleolar distance is
increased in genu valgum (more than 8 cm is significant; knock-knees).
Windswept deformity is when there is genu varum on one leg and genu valgum
on the other.
Fig 37: Severe genu varum in a child with X-linked hypophosphatemic
rickets (image taken with parents’ consent)
Fig 38: Windswept deformity in a child with X-linked Hypophosphatemic
Rickets (image taken with parents’ consent)

b) Look for attitude and posture, muscle wasting, limb-limb discrepancy, power,
deep tendon reflexes, plantar reflex in a neurological disease.

c) Assess for pedal edema against the medial malleolus and peripheral pulses at
the dorsalis pedis and posterior tibial artery.

d) Gait testing is paramount to assess the functioning of lower limbs: antalgic

gait in painful hip joint; equinus gait in spastic CP; high steppage gait in
common peroneal nerve palsy; Trendelenburg gait in hip abductor muscle
weakness; waddling gait in rickets.

e) Feet: various abnormal findings in feet can be summed up as follows:

• Rocker-bottom feet (congenital vertical talus) seen is trisomy 18 and

trisomy 13.
• Pes planus (flat foot)- absence of longitudinal arch seen in cerebral palsy,
EDS, Marfan syndrome, osteogenesis imperfecta, muscular dystrophy.
 • Pes cavus (claw foot)- high longitudinal arch seen in poliomyelitis; cord
lesions like cauda equina syndrome; genetic disorders like Hurler
syndrome, Friedrich ataxia, Refsum disease; idiopathic.
• Club foot (Congenital talipes equinovarus): associated with adduction of
fore-foot, inversion of hind-foot, varus and equinus deformity with
medial rotation of the foot; frequently associated with Arthrogryposis
multiplex congenita (AMC)
• Hammer toe (flexion contracture of PIP): seen in trisomy 18.

f) Temperature of the feet and CRT should be checked in case of shock/poor

perfusion.

12. SKIN: a) look for colour changes like pallor, cyanosis, jaundice, etc.
b) Purpura, ecchymoses are seen in liver cirrhosis, thrombocytopenia, fat
malabsorption syndromes due to loss of Vitamin K.

c) Skin turgor is assessed in dehydration

d) scratch marks are seen in severe pruritus associated with cholestatic disorders

e) Erythema nodosum is seen in IBD, sarcoidosis, tuberculosis, Bechet disease.

f) Increased skin fragility is seen in EDS, hypothyroidism

g) Xanthomas are seen in type 1 hyperlipidaemia, type 1 GSD.

h) Pigmentation disorders: brownish black in Addison disease, bronze in

hemochromatosis or iron overload; generalised hypopigmentation in Oculo-
cutaneous albinism; depigmented patches in vitiligo.
Fig 39: A child with Oculocutaneous albinism type 1b (image taken with
parents’ consent)

i) Subcutaneous emphysema may occur due to collection of air in subcutaneous

tissue planes; seen in whooping cough, traumatic chest injury.

j) Sulpha drugs, allopurinol, anti-epileptic drugs can cause Steven-Johnson

syndrome marked by widespread epidermolysis of skin and mucous
membranes.

k) Scurvy is marked by peri-follicular haemorrhages.

l) Acrodermatitis enteropathica leads to ulceration and vesicle formation

around the genital and peri-orofacial areas. It is caused by zinc deficiency.

m) Neurocutaneous syndromes are marked by the presence of Café-au-lait

macule (CALMs); capillary haemangioma (in SWS); telangiectasias in A-T;
ash-leaf macule, shagreen patch and adenoma sebaceum in TSC complex.
CALMs are seen in NF-1 (coast of California appearance), Mc-cune Albright
syndrome (Coast of Maine appearance), Bloom syndrome, Cowden syndrome,
Russell-Silver syndrome.
 Fig 40: A child with Sturge-Weber syndrome and port-wine stain (image
taken with parents’ consent)

Fig 41: Café-au-lait-macule in the back in NF-1 (image taken with parents’
consent)
Fig 42: CALM in a female with precocious menarche (Mc-Cune Albright
syndrome)- image taken with parents’ consent

13. NAILS: The following changes can be described in nails:

Appearance of nails Associated condition

Platynychia (flattened nails), Iron deficiency anemia

Koilonychia (spoon shaped nails)

Brittle nails PEM

Absent nails Ectodermal dysplasia

Terry’s nails Proximal half white and distal half

brown; seen in CKD and CLD

Mee’s lines Single transverse line above lunula;

seen in arsenic poisoning
 Beau line Multiple white transverse lines in
nail-plate; seen in PEM

Muehrcke lines White lines separated by normal pink

bands; seen in cirrhosis and protein
losing enteropathy (due to low
albumin)

14. HAIR: Hair growth occurs in 3 phases: catagen, anagen and telogen. The
various conditions associated with changes in hair are:

a) Thin, brittle, sparse, lustreless hair in Kwashiorkor; also associated with flag
sign (alternate bands of pigmented and de-pigmented hair)

b) Hypothyroidism: coarse hair with low hairline

c) ectodermal dysplasia- hair may be absent

d) Seborrheic dermatitis: with tinea capitis

e) Menke kinky hair syndrome: pili torti (twisted hair), monilethrix (varying
diameter of hair shafts) and trichorrhexis nodosa (fractures of hair shafts at
regular intervals); hairs are normal at birth, changes are visible at around 3
months of age.

f) Alopecia is seen in zinc deficiency, APS, VDDR type 2.

g) Excessive hair growth (hypertrichosis) seen in endocrine disorders like

Cushing’s syndrome, hypothyroidism (pic), CAH, PCOS; drugs like minoxidil,
androgens, danazol, acetazolamide; fetal alcohol and fetal hydantoin syndrome.
Fig 43: A child with severe acquired hypothyroidism and hypertrichosis

h) Hypotrichosis is seen in testicular failure, hepatic failure an Klinefelter

syndrome.

15. SPINE: look for any gibbus, lordosis, scoliosis, or kyphosis. Gibbus is
seen is thoraco-lumbar/spinal Potts disease. Scoliosis is seen in poliomyelitis,
hemivertebra, osteogenesis imperfecta, Marfan syndrome.

16. RECTAL EXAMINATION: is not done in all the cases. It helps to

differentiate between habitual constipation (rectum loaded with stools) and
congenital megacolon (rectum empty with gush of air after the examining finger
is taken out).

• It is done in left lateral position with the upper thigh flexed and drawn
over the hips.
• The gloved hand should first be lubricated. If there is any anal fissure
present, PR exam should be aborted.
 • The volar aspect of the pulp of the index finger should be inserted and
made a 360° sweep to examine all parts of the rectum: anterior
(Rectovesical pouch, prostate in males, cervix in females), laterally (side
walls of rectum) and posteriorly (sacrum and coccyx).
• Anal tone and anal wink should also be assessed in the same setting.

FOCUSSED SYSTEMIC EXAMINATION (details in individual

chapter)
Focussed examination of each system (CVS, RS, CNS, abdomen) should be
done under the following heading:

• Inspection
• Palpation (superficial, deep and bi-manual)
• Percussion (using plexor and pleximeter fingers)-direct, indirect and
ausculto-percussion for minimal ascites and surcussion splash
• Auscultation- using diaphragm and bell of a stethoscope (front and back)

SUMMARY
• General physical examination is the stepping stone to a valuable and
precise diagnosis of a disorder.
• The physician must be empathetic, emotional, and patient while
examining a child.
• Following a set order or checklist during examination helps to not miss
any system or signs during general physical examination.
• Consent should always be taken from the mother during examining a
child. A female adolescent should be seen in the presence of a female
attender/ nurse.
• A summary of the findings should be written in the end and a differential
diagnosis should be formulated to arrive at an accurate diagnosis.
SUGGESTED READING:
a) Clinical Paediatrics- History taking and Case discussion by Aruchamy
Lakshmanaswamy (Fifth edition)

b) Paediatric clinical methods by Meharban Singh

c) Nelson textbook of Pediatrics, 21st edition

d) CDT Paediatrics, 2020

e) Cloherty and Stark’s manual of Neonatal Care (South Asian edition,

2020)