Chapter 1 – Growth

Normal Growth . . . . . . . . . . . . . . 2 Vertebral Column . . . . . . . . . . 11

Gamete . . . . . . . . . . . . . . . . . . . 2 Infancy . . . . . . . . . . . . . . . . . . . 12
Early Embryo . . . . . . . . . . . . . . . 2 Childhood . . . . . . . . . . . . . . . .15
Embryo . . . . . . . . . . . . . . . . . . . . 3 Adolescence . . . . . . . . . . . . . .16
Connective Tissue . . . . . . . . . . 4 Abnormal Growth . . . . . . . . . . .18
Synovial Joints . . . . . . . . . . . . .6 Congenital Defects . . . . . . . . .18
Bone . . . . . . . . . . . . . . . . . . . . .6 Chromosomal Abn. . . . . . . . . 18
Growth Plate . . . . . . . . . . . . . . .7 Inherited Disorders . . . . . . . . 20
Bone Growth . . . . . . . . . . . . . . 8 Abnormal Morphogenesis . . . 22
Nervous System . . . . . . . . . . . .9 Developmental Deformities . . 23
Muscle . . . . . . . . . . . . . . . . . . 10 Iatrogenic Deformities . . . . . . 24

Pediatric orthopedics is a subspecialty of medicine that deals

with the prevention and treatment of musculoskeletal disor-
ders in children. In 1741, Nicholas Andry, professor of medi-
cine at the University of Paris, published his treatise describ-
ing different methods of preventing and correcting deformi-
ties in children [1]. He combined two Greek words, orthos,
or straight, and paidios, child, into one word, “orthopedics,”
which became the name of the speciality concerned with the
preservation and restoration of the musculoskeletal system.
Pediatric orthopedics is central to this specialty because of
Andry’s original focus on childhood problems, because of the
large proportion of orthopedic problems that originate dur-
ing the early period of growth, and finally, because pediatric
orthopedics offers a dynamic and inherently interesting subspecialty.
A knowledge of normal and abnormal growth and development is vital to
an understanding of pediatric orthopedics [2]. This knowledge increases our
comprehension of the musculoskeletal system, improves our understanding
of the causes of disease, and makes us better able to manage the varied
orthopedic problems of childhood.
Dividing the period of growth into seven stages provides a convenient
framework to review both normal and abnormal growth and development [3].
During the first stage, reproductive cells or gametes are formed.

Category Period
Gamete Prior to fertilization

Early Embryo 0–2 weeks

Embryo 2–8 weeks

Fetus 8 weeks to birth

Infant Birth to 2 years

Child 2 years to puberty

Adolescent Transition to maturity

2 Femoral torsion. Femoral torsion is 3 Growth phases. The period of growth

often familial. Many common musculoskeletal can be divided into seven phases.
problems have a genetic basis.
2 Growth / Embryo

Normal Growth
Gamete
Gamete is a collective term for ovum and sperm. During gametogenesis,
meiotic division halves the chromosome number. Genetic material, which
may include defective genes, is shuffled, and mature ova and sperm are
formed [1].
Early Embryo
This early embryonic phase encompasses the 2-week period from fertiliza-
tion to the implantation of the embryo.
First week During the first week following fertilization, the zygote repeat-
edly divides as it moves through the fallopian tubes to the uterus. The
zygote becomes a morula, then a blastocyst. The blastocyst implants itself
on the posterior uterine wall.
Second week During this week, the amniotic cavity and trilaminar em-
bryonic disc are formed [2]. The early embryo is usually aborted if a lethal
or serious genetic defect is present. During these first two weeks, the early
embryo is less susceptible to teratogens than during the following embry-
onic period.

1 Gametogenesis. The ovum

44 44
primary and sperm are formed by two
XX XX oocyte
meiotic divisions that halve the
chromosome number and shuffle
genetic material. Fertilization
22 22 secondary combines the traits of both parents
X X oocyte
to create a unique individual.

44 22 22 44
XX 22
X
X X 22
Y
XY
fertilization

meiotic
divisions 22 22 secondary
X Y spermatocyte
first
second
polar 44 primary
bodies XY spermatocyte

2 Trilaminar Disc. The neural

tube closes. The mesoderm
differentiates into dermatome,
myotome, and sclerotome.
A

B D
Neural tissue
Mesoderm
Dermatome
Myotome
Sclerotome
C
 Growth / Embryo 3
Embryo
The organ systems of the body develop during the embryonic period.
Differentiation to more specialized tissue occurs through complex mecha-
nisms such as induction. Induction is the process by which cells act on other
cells to produce entirely new cells or tissue.
Third week This is the first week of organogenesis. During this week, the
trilaminar embryonic disc develops, somites begin to form, and the neural
plate closes to form a neural tube.
Fourth week During this week, the limb buds become recognizable [1].
Somites differentiate into three segments. The dermatome becomes skin,
the myotome becomes muscle, and the sclerotome becomes cartilage and
bone. The apical ectodermal ridge develops in the distal end of each limb
bud. The ridge has an inductive influence on limb mesenchyme, which
promotes growth and development of the limb. Serious defects in limb
development may originate at this time.

AGE SIZE
wks. mm. Shape Form Bones Muscles Nerves

Trilaminar Neural
notochord plate

Limb Neural
Sclerotomes Somites tube
buds

E Hand Mesenchyme Premuscle

m plate condenses
b
r
y
o Digits Chondrification Fusion
12 myotomes

Limbs Early
17 rotate ossification Differentiation

Cord equals
Fingers Definite vertebral
23 separate muscles length

Sex Ossification
12 56 determined spreading

F
e
t Face Joint Spontaneous
16 112 human cavities activity
u
s
Myelin
20 160- Body more sheath
40 350 proportional forms; cord
ends L3

1 Prenatal development. This chart summarizes musculoskeletal development during

embryonic and fetal life.
4 Growth / Embryo
Fifth week The hand plate forms and mesenchymal condensations occur
in the limbs.
Sixth week The rays of the digits become evident and chondrification of
mesenchymal condensations occurs.
Seventh week The notches appear between the digit rays. Failure of the
separation of rays results in syndactylism. During this week, the upper and
lower limbs rotate in opposite directions [1]. The lower limb rotates medially
to bring the great toes to the midline, whereas the upper limb rotates about
90˚ laterally to position the thumb on the lateral side of the limb.
Eighth week The fingers separate completely, the embryo assumes a hu-
man appearance, and the basic organ systems are completed.
Fetus
The fetal period is characterized by rapid growth and changes in body pro-
portions.
Ninth to twelfth weeks The first bone, the clavicle, ossifies by a process of
intramembranous deposition of calcium. The upper limbs become propor-
tionate compared to the rest of the body, but the lower limbs remain short.
Thirteenth to twentieth weeks Growth continues to be rapid. The lower
limbs become proportionate and most bones ossify. The fetal period is
characterized by rapid growth and changes in body proportions.
Twentieth to fortieth weeks Growth continues and body proportions be-
come more infant-like.
Connective Tissue
During early fetal life, the basic structure of connective tissue is formed
largely of two families of macromolecules—collagens and proteoglycans.
Collagen Collagen is a family of proteins containing a triple helix of pep-
tide chains [2]. Although at least ten different types of collagen are known,
five types are most common [3].

1 Limb
rotation. During the
seventh week, the
upper limb rotates
laterally. The lower 2 Collagen helix. A triple helix of peptide
limb rotates medially chains form the basic collagen structure.
to bring the great toes
to the midline.

Location Type Comment

Interstitial I Ubiquitous, skin, tendons
II Cartilage and nucleus pulposus

III Like type I, but absent in bone

Segmentation IV Lens and kidney

V Minor component of bone

3 Collagen types. Five basic collagen types in human connective tissue.
 Growth / Fetus 5
The biosynthesis of collagen starts in the endoplasmic reticulum, where
the basic molecule is assembled. In the extracellular space, procollagen is
formed. It is arranged into fibrils and reinforced by cross-linkages to become
collagen. Collagen is the major component of connective tissue.
Disorders of collagen are common. They may be minor, producing only
increased joint laxity [1], or severe, causing considerable disability. The
major collagen disorders are classified according to the site of the defect in
the pathway of collagen biosynthesis.
Proteoglycans (mucopolysaccharides) Proteoglycans are macromolecules
that form the intracellular matrix of hyaline cartilage and the other con-
nective tissues. Polypeptides or proteins attach to glycosaminoglycan to
become proteoglycans [2]. Proteoglycans attach to a hyaluronic acid by a
link protein to become an aggregate with a molecular weight in excess of
one million. Proteoglycans are highly hydrophilic, and in water, they com-
bine with many times its weight of water to create an elastic matrix that is
ideal for joint lining. Hyaline cartilage is composed of about equal amounts
of proteoglycans and collagen, and it combines with about three times
their weight of water. Defects in the formation of these complex molecules
produce a variety of diseases.
Mucopolysaccharide (MPS) storage diseases result from a deficiency of
specific lysosomal enzymes necessary for the degradation of glycosamino-
glycans. These diseases are caused by intracellular accumulation of partially
degraded molecules that result in cell dysfunction or death.

Link protein Proteoglycan aggregate

Hyaluronic acid

Linkage region
Core protein
Keratin sulfate
Chondroitin sulfate

1 Clinical manifestations of 2 Proteoglycan aggregate. These massive

collagen types. Variations of molecules combine with water to form a resilient
collagen types are common in matrix such as that of hyavline cartilage.
pediatric orthopedics. This child has
developmental hip dysplasia with
extreme joint laxity.
6 Growth / Bone Formation

Synovial Joints
Synovial joints develop first as a cleft in the mesenchyme, which then chon-
drifies and cavitates [1]. Cavitation is completed by about the fourteenth
week, with the inner mesenchyme becoming synovium and the outer mes-
enchyme becoming the joint capsule. Normal joint development requires
motion, and motion requires a functioning neuromuscular system. Thus,
defective joints are often seen in infants with neuromuscular disorders such
as myelodysplasia or amyoplasia.
Bone Formation
Bones form in stages. First, mesenchymal cells condense to become models
for future bones. The second stage, chondrification, is a time of rapid inter-
stitial growth. Finally, cartilage is converted to bone by intramembranous
and endochondral ossification.
Endochondral ossification takes place in most bones [2]. During the
fetal period, primary ossification centers develop in long bones within the
diaphysis. Ossification first occurs under the perichondrium. Within the
cartilage, hypertrophied cells degenerate. Next, vascular ingrowth occurs,
and then the core of the cartilage model is ossified to form the primary os-
sification center. Endochondral ossification proceeds at the cartilage–bone
interphase. Later, secondary ossification centers develop at the ends of the
bones, and the cartilage interposed between the primary and secondary
ossification centers becomes the growth plate.

1 Synovial joint formation. The

synovial joints form first as condensations
of mesenchyme. Cavitation, chondrification,
synovial differentiation, and finally ossification
complete the basic structure.

A B C

Cartilage
Bone
Synovium
Mesenchyme
Sclerotome

D E

2 Endochondral
ossification. A
typical long bone
is preformed in
mesenchyme. Chon­
drification precedes
ossification.

Mesenchyme
Cartilage
Bone
Blood Vessels
 Growth / Bone Formation 7
Primary ossification centers for long bones usually develop before birth
[1], whereas primary ossification centers for smaller bones, such as the
patella and most carpal and tarsal bones, develop during infancy. Second-
ary ossification centers develop during infancy and early childhood. They
fuse with the primary centers during late childhood, adolescence, and early
adult life. Because osseous maturation continues throughout childhood
and adolescence in a reasonably orderly fashion, the extent of ossification,
as radiographically documented, has become the standard for assessing
maturation.
Woven bone is formed during the fetal period. This bone has less struc-
ture, a relatively higher collagen content, and more flexibility than lamellar
bone. This flexibility becomes essential during the transverse of the birth
canal. Woven bone is gradually replaced by lamellar bone during infancy,
and little remains in childhood.
Cortical thickness also increases throughout childhood. For example, the
diameter of the diaphysis of the femur increases faster than the diameter of
the medullary canal. This produces an increasing diaphyseal thickness with
ad­vancing age. This increasing thickness, lamellar structure, and proportion
of calcium give mature bone great tensile strength but little flexibility. These
changes are important factors in producing the varying patterns of skeletal
injury seen during infancy, childhood, and adult life.
Growth Plate
The growth plate of long bones develops between the primary and second-
ary ossification centers. The function of the growth plate is to produce lon-
gitudinal growth [1 next page]. This is accomplished by a complex process
of proliferation and maturation of chondrocytes, matrix production, and
mineralization, followed by endochondral ossification. Growth plates with
more limited growth potential develop at other sites. These include the
periphery of round bones, such as the tarsal bones or vertebral bodies, and
the sites of muscle attachments, such as the margins of the ilium. Such sites
are referred to as apophyses.
The typical long bone epiphysis is divided into zones that reflect morpho-
logical, metabolic, and functional differences.
The reserve zone (RZ) is adjacent to the secondary ossification centers
and is a zone of relative inactivity. The RZ does not participate in the longi-
tudinal growth of the bone, but it does provide some matrix production and
storage functions.

1 Radiograph of bones of a newborn infant. This

radiograph shows primary ossification of the skeleton.
Much of the skeleton is cartilage at this age.
8 Growth / Growth Plate

The proliferative zone (PZ) is the zone of cartilage cell replication and
growth. A high metabolic rate and abundant blood supply, oxygen, glyco-
gen, ATP, and collagen make this rapid growth possible.
The hypertrophic zone (HZ) consists of three subzones: maturation, de-
generation, and provisional calcification segments. In the HZ, the cartilage
cells increase in size and the matrix is prepared for calcification. This is as-
sociated with a decline in blood supply, oxygenation, and glycogen stores
and with a disintegration of aggregated mucopolysaccharides and chon-
drocytes. In the subzone of provisional calcification, a unique collagen X is
synthesized that accepts calcium deposition.
The metaphysis is the site of vascularization, bone formation, and re-
modeling. The calcified matrix is removed, and fiber bone is formed and
replaced by lamellar bone.
The periphery includes the growth plate and metaphysis, which are
the primary sites for infections, neoplasms, fractures, and metabolic and
endocrine disorders. Problems in the growth plate constitute a significant
portion of diseases of the musculoskeletal system in childhood.
Bone Growth
The rate of growth may be retarded by many factors, such as injury, dis-
ease, and medical procedures. Brief periods of growth retardation may
produce growth arrest lines. These lines may be visible on radiographs [1
next page].

HISTOLOGY ZONE DISEASE MECHANISM

Diastrophic dwarfism Type II collagen

defective
Reserve Proteoglycans
Pseudoachondroplasia processing
defective

Deficient cell
Achondroplasia proliferation
Proliferative
Gigantism Excessive cell
proliferation

Maturation
HYPERTROPHIC

Mucopoly- Lysosomal enzyme

saccharidosis deficiencies

Degenerative

Calcium or
Provisional
calcification Rickets vitamin D
deficiency

Deposition of
Osteomyelitis bacteria
Primary
spongiosa Hypertrophic cells
METAPHYSIS

Metaphyseal
dysplasia extend into
metaphysis

Osteogenesis Abnormal
Secondary imperfecta collagen synthesis
spongiosa Defective
Osteopetrosis osteoclasts

1 Growth plate. This section from the proximal femoral epiphysis is enlarged to show the
histology and disordered growth that occurs at various levels of the growth plate.
 Growth / Nevous System Development 9

Nervous System Development

During the third week of fetal life, the neural plate develops as a thickening
of the dorsal portion of the ectoderm [2]. The neural plate then infolds to
form the neural groove in the center, with neural folds on each side. During
the fourth week, the neural groove closes to become the neural tube, and
the neural crest separates and becomes interposed between the neural tube
and surface ectoderm.
The neural crest becomes the dorsal root ganglia and the dorsal or
sensory roots. The ventral or motor roots arise from the basal plates on
the ventrolateral aspect of the neural tube. The combination produces the
peripheral nerves.
Peripheral nerves grow into the forming limb buds of equivalent somites,
penetrating the mesenchyme, and are distributed to the developing mus-
cles. Cutaneous sensation is also provided in a segmental fashion.
Myelination of the spinal cord forms during the late fetal period and
continues into early infancy.
Initially, the neural and bony elements of corresponding somites lie
opposite each other. Thus, the caudal end of the spinal cord fills the spinal
canal, and the spinal nerves pass through the corresponding intervertebral
foramina. By the 24th fetal week, the cord ends at S1; at birth, at L3; and
in the adult, at L1 [3]. This differential growth rate results in the forma-
tion of the caudal equina: the accumulation of the nerves traversing the
subarachnoid space to the intervertebral foramina. The end of the cord is
attached to the periosteum opposite the first coccygeal vertebra by the
filum terminale. The filum is the residual of the embryonic spinal cord.

1 Growth lines. Note the growth arrest

lines (arrows) in this child with developmental
hip dysplasia. Presumably the anesthetic and
closed reduction caused the arrest. Bone
growth since the arrest is shown by the width
of the new metaphyseal bone.

L1
L1 L1

L3

L3
L3

A B
Embryo

Birth

C
D
Adult

2 Development of the nervous 3 Spinal cord vertebral column

system. The nervous system is formed from relationship. During the fetal period, the
the neural plate. (A) Infolding. (B) Neural spinal cord fills the vertebral canal. With
crest. (C) Tube closure. (D) Dorsal and ventral growth, the cord ends at a progressively
root formation. higher level.
10 Growth / Muscle Development
Somites produce a dermatomal pattern of sensory distribution. This simple
pattern [1] becomes complicated by the rotation of the limb.
Muscle Development
Mesoderm of the somites’ myotome segments produce myoblasts, which in
turn produce the skeletal muscle of the trunk. Somatic mesoderm produces
the limb buds’ mesenchyme, which then forms limb muscles. Limb muscles
develop from mesenchyme of the limb buds, which originate from somatic
mesoderm. Individual muscles are present by the eighth fetal week. Muscle
fibers increase in number before and after birth. Between 2 months of age
and maturity, muscle fibers increase about 15-fold in the male and 10-fold
in the female. Increase in the size of fibers occurs most rapidly after birth,
increasing the muscle component of body weight from about one-fourth at
birth to nearly half in the adult.

1 Dermatomes. Somites produce dermatomes

that are simple and well delineated. The simple
Preaxial side of limb pattern is altered by subsequent limb rotation.

4
5
6
7
8
2 1

Postaxial side of limb

1 2
3
4
5
1
2

Somites Vascular Vertebral Child's

Ingrowth Bodies Vertebrae

2 Vertebral intersegmental development. The vertebral bodies form as intersegmental

structures. As blood vessels grow between somites, their final position is midvertebral. The site of
blood vessel entry and somite fusion is sometimes seen radiographically as an anterior notch in
the vertebral body of the child (arrows).
 Growth / Vertebral Column Development 11

Vertebral Column Development

The axial system develops during the embryonic period. During the fourth
week, mesenchymal cells from the sclerotome grow around the notochord
to become the vertebral body and around the neural tube to form the verte-
bral arches [1]. Cells from adjacent sclerotomes join to form the precursor
of the vertebral body, an intersegmental structure. Between these bodies,
the notochord develops into the intervertebral disc. Cells surround the neu-
ral tube to become the vertebral arches.
During the sixth fetal week, chondrification centers appear at three sites
on each side of the mesenchymal vertebrae. The centrum is formed by
the coalition of the two most anterior centers. Chondrification is complete
before the ossification centers appear [2]. The centrum, together with an
ossification center of each arch, make a total of three primary ossification
centers for each vertebra.
During early childhood, the centers of each vertebral arch fuse and are
joined to the vertebral body by a cartilaginous neurocentral junction. This
junction allows growth to accommodate the enlarging spinal cord. Fusion of
the neurocentral junction usually occurs between the third and sixth years.
Anterior notching of the vertebrae is sometimes seen in the infant’s or child’s
vertebrae and shows the site of somite fusion [2 opposite page].
Secondary ossification centers develop at the ends of the transverse and
spinous processes and around the vertebral end plates at puberty. These
fuse by age 25 years. Congenital defects are common in the axial system.
Variations in the lumbar spine occur in about one-third of individuals. Spina
bifida occulta is common. Hemivertebrae result from a failure of formation
or segmentation. Such lesions are frequently associated with genitourinary
abnormalities and less frequently with cardiac, anal, and limb defects and
with tracheoesophageal fistula.

1 Sclerotome growth. Cells from

the sclerotome grow around the
notochord and neural tube.

2 Vertebral
development. Vertebrae develop
first as mesenchyme, then cartilage,
and finally bone. Secondary
ossification centers develop
during childhood and fuse during
adolescence or early adult life. From
Mesenchyme Chondrification Primary Moore (1988).
centers ossification

Neural tissue
Cartilage
Bone
Mesenchyme
Secondary
ossification
centers
12 Growth / Infancy

Infancy
Infancy extends from birth to 2 years of age. It encompasses the period of
most rapid growth and development after birth.
Body proportions Growth of various body parts are different from one an-
other. Upper limb growth occurs earlier than lower limb growth, and the foot
grows earlier than the rest of the lower limb. In childhood, the trunk grows
most rapidly; in adolescence, the lower limbs grow the fastest. Throughout
growth, body proportions gradually assume adult form [1].
Growth is greatest in early infancy, declines during childhood, and briefly
increases again during the adolescent growth spurt. A child is about half
his or her adult height at 2 years of age and about three-fourths by 9
years of age [2].
Growth rates from various epiphyses varies. In the upper limb, growth
is most rapid at the shoulder and wrist in contrast to the lower limb where
most growth occurs just above and below the knee [1 opposite page].

Fetus Birth 2 yr 5 yr` 13 yr 17 yr Adult

1 Changes in body proportions with growth. At maturity,

the position of the center of gravity (green line) is the level of the
sacrum. From Palmer (1944).

A B 2 Growth Rate. A.
Growth rates for girls
20 150 (red) and boys (blue)
¨ 3/4 by age. The greatest
15
100 rate of growth occurs
Adult height
¨ 1/2 during infancy. B.
cm.

10
Growth rate as a
50
5 fraction of adult
height. About half of
0 0 an individual’s adult
0 5 10 15 0 2 9 19
Years of age
height is reached
by age 2 years and
three-fourths by age
9 years.

3 Growth 4 Subcutaneous fat in

variations. These infancy. Note the thickness in
individuals show the the subcutaneous fat (arrows) in
wide variations in growth. this infant undergoing clubfoot
Courtesy of Dr Judy Hall. correction.
 Growth / Infancy 13

The growth rate of tissues varies with age. Subcutaneous fat, which
provides nutritional reserve and protection from cold and injury, develops
during the first year. The fat also obscures the longitudinal arch of the foot,
giving the infant a flatfooted appearance [4 opposite page]. The percentage
of muscle increases with age, but the percentage of neural tissue declines
with advancing age.
Growth control factors are systemic and local.
• Systemic factors play a key role. Endocrine, nutritional, and metabolic
disorders significantly alter growth [3 opposite page].
• Local factors may retard or accelerate growth [1 next page]. Procedures
known to accelerate growth have been used in an attempt to lengthen
the short limb due to poliomyelitis. Unfortunately, the gain in length is
not predictable and is not enough to be clinically useful.

Humerus Radius
Proximal 80% Proximal 25%
Distal 20% Distal 75%

Femur
Proximal 30%

Distal 70%
Ulna
Proximal 80%

Distal 20%

Fibula Tibia
Proximal 60% Proximal 55%

Distal 40% Distal 45%

1 Epiphyseal contribution of long bone growth. From Blount (1955).

14 Growth / Infancy
Compression of the physis retards growth in proportion to the load
applied [2]. This has been studied in rats. Forelimb amputations result in
upright walking. This bipedal walking causes significant anterior wedging of
the lower lumbar vertebrae, presumably due to the greater loads applied to
the anterior portion of the vertebral bodies.
Growth control factors are inherent in each growth plate. When juvenile
limbs are transplanted onto adult rats, they continue to grow.
Gross motor development The standard for assessing motor develop-
ment is the age of acquisition of gross motor skills. Such skills are easily
measured and useful in assessing development [3]. Infants usually show
head control by about 3 months, sit by 6 months, stand with support by 12
months, and walk unsupported by 15 months. These general guidelines are
useful when screening.

Local Factors Effects Growth

Physeal compression Retards
Denervation Retards
Physeal ischemic injury Retards
10
Sympathectomy Accelerates
AV fistula Accelerates
Growth ( mm )

Periosteal division Accelerates

5 al
rm
No
Periosteal stripping Accelerates sion
pres
Com
10 N ssion
Diaphyseal fracture Accelerates 20 N C
om p re

Foreign body reaction Accelerates

10 20 30
Chronic osteomyelitis Accelerates Time ( days )

1 Local factors affecting growth. 2 Physeal compression effect

on growth. Growth rate is reduced
by compression (N = Newtons). From
Bonnell (1983).

1 2 3 4 5 6 7 8 9 10 11 12 13 14 16 18 20 22 24 2.5 3 3.5 4 4.5 5 6

Smiles
spontaneously Puts on clothing

ADLS
Feeds self Dresses without
crackers Drinks from cup
supervision

Turns to voice Combines 2 different words

Language
Dada or mama, Recognizes
Laughs specific 3 of 4 colors

Head Walks holding Balances on 1 foot

Control on furniture 10 seconds/2 of 3

Motor Sits without Jumps

support Walks well in place Hops on 1 foot

Rolls Pulls self Walks up Balances on 1 foot

over to stand steps 5 seconds/2 of 3

1 2 3 4 5 6 7 8 9 10 11 12 13 14 16 18 20 22 24 2.5 3 3.5 4 4.5 5 6

3 Denver developmental screening test. From Frankenberg (1967).

 Growth / Childhood 15

Childhood
Childhood extends from the middle of the second year until adolescence.
During this time, growth and development continue but at a slower rate
than in infancy. Because childhood lasts so long, the majority of growth
and development occurs during this period.
Gait during infancy is less stable and efficient than that of the child or
adult [1]. Early gait is characterized by a wide-base irregular cadence,
instability, and poor energy efficiency. The instability of gait in the infant is
due to a high center of gravity, low muscle to body weight ratio, and im-
maturity of the nervous system and posture control m ­ echanisms.
Developmental variations occur during infancy and childhood [2]. These
variations are commonly mistaken for deformities. They include flatfeet,
in-toeing, out-toeing, bowlegs, and knock-knees. These conditions resolve
with time and seldom require any treatment. These conditions are covered
in more detail in Chapters 4 and 5.
Prediction of adult height is valuable in managing certain deformities,
particularly anisomelia (limb length inequality). A variety of methods for
predicting adult height are available. A simple method involves establishing
the percentile of height by plotting the child’s height on the growth chart by
bone age rather than by chronologic age. This percentile is projected out to
skeletal maturity to provide an estimate of adult height [1 next page].

Infant’s gait:
Upper limb
arm abduction
elbow extension
little arm movement
Lower limb
toe strike first
1 Year wide base
faster cadence
short step length
more variability
less efficient

3 Years

7 Years

1 Development of normal gait. Adult gait 2 Developmental variation in normal

pattern is achieved by about 7 years of age children. Common variations include
iln the normal child. From Sutherland (1980) knock-knees (left), flatfeet (top right), and
children. femoral torsion (lower right).
16 Growth / Adolescence

Adolescence
Adolescence extends from the beginning of puberty until skeletal maturity.
Certain diseases, such as scoliosis and slipped capital femoral epiphysis,
develop during this time.
During adolescence, psychosocial factors receive a higher priority than in
childhood. Physical appearance becomes increasingly important. Preexisting
deformities or disabilities that may have caused little concern during child-
hood suddenly produce great distress. A boy with a small calf associated
with a clubfoot deformity will request exercises to build up the limb size. A
girl will become aware of old operative scars on her knee that before were
ignored. A girl with an abductor lurch, present since infancy, may become
concerned about it for the first time at age 13 years.

1 Prediction of adult
Bone Age height. Predict adult height by
5 10 15 plotting the child’s bone age (vertical
1. Growth Chart (Boys)
red line) against the current height
75
(horizontal red line) to determine the
percentile value (green). Follow the
2. Bone Age (10) 70 percentile (green line) to skeletal
maturation to estimate final adult
65
3. Height (57") height.
60
4. Percentile (90)

55

5. Projected height 50
at maturity (73")

45
Height (inches)

40

35

30

2 Obesity and orthopedic problems. Two 3 Leg length inequality. Bone

common serious orthopedic problems, slipping of the age determination is helpful
capital femoral epiphysis (black arrow) and tibia vara in planning correction by
(yellow arrow), are commonly associated with obestiy. epiphysiodesis.
 Growth / Adolescence 17
Obesity Obesity in children is becoming more common. The added weight
is a factor in the development of several orthopedic problems. These in-
clude slipped capital femoral epiphysis and tibia vara [2 opposite page].
Determining maturation level Knowing the amount of growth remaining is
important to the timing of physeal fusion and thus in correcting leg length
inequality [3 opposite page] and in managing patients with scoliosis.
• Hand–wrist radiographs Use the Greulich­–Pyle atlas to estimate the
bone age.
• Tanner stages The level of maturation is based on the physical exami-
nation. Because this assessment requires an assessment of breast and
genital development [1] in a sensitive age group, its use is limited.
• Risser sign is based on the extent of ossification of the iliac crest as as-
sessed on the AP radiograph [2]. This sign has been commonly used in
assessing maturity when managing scoliosis.
• Other signs such as the velocity of height gain and the status of the tri-
radiate cartilage (acetabulum) are becoming useful maturational indices.

1 2 3 4 5

Peak height velocity

Genital stages Adult

Menarche
1 2 3 4 5

Breast stages Adult

9

10

11

12

Age 13

14

15

16

17

1 Tanner maturation index. Using physical signs, the level of maturation is assessed for males
(blue) and females (red). The columns show the 3–97% levels. Mean values are shown by the
black bars.

2 Risser sign. The extent of

ossification of the iliac apophysis
is commonly used to assess the
skeletal maturation of patients
0 1 2 3 4 5 with scoliosis. Risser 0 = no iliac
Risser sign apophysis; Risser 5 = fusion of the
apophysis with the ilium.
18 Growth / Congenital Defects

Abnormal Growth
Disorders affecting the musculoskeletal system are relative common [1].
These and other conditions that cause limitation of activity in children have
tripled during the past four decades because children with disabilities are
more likely to survive today than in the past.
Congenital Defects
Multifactorial inheritance is the most common cause of congenital defects
[2]. Of newborn infants, 3% show major defects and an additional 3% are
discovered later during infancy. About 20% of perinatal deaths are attribut-
able to congenital problems. Single minor defects are present in many new-
borns. Because infants with multiple minor defects have a higher incidence
of major malformations, the finding of minor defects should prompt a care-
ful search for more serious problems. Musculoskeletal problems account for
about one-third of congenital defects. Hip dysplasia and clubfeet make up
half of the primary musculoskeletal defects.
Although inherited disorders may manifest themselves during
infancy, the majority of musculoskeletal problems of infancy are due to
environmental factors, such as malnutrition, infection, and trauma.
Chromosomal Abnormalities
Chromosomes have been mapped to show the location of defective genes
that create disorders often seen in orthopedic clinics [1 opposite page]. The
linkage of genes causing diseases with genes controlling distinguishable
characteristics makes possible the identification of individuals at risk for
certain diseases. For example, on chromosome 9, the gene carrying nail–
patella syndrome is linked to the gene of ABO blood type. Offspring with the
same ABO blood type as an affected parent will carry the syndrome.
Many chromosomal abnormalities are due to changes in number, struc-
ture, or content of chromosomes. Numerical changes in chromosomes
are due to a failure of separation or nondisjunction during cell division.
Nondisjunction results in monosomy or trisomy gametes. Monosomy of sex
chromosomes produces the XO pattern of Turner’s syndrome.

1 Prevalence of
Disease Prevalence estimated per 1000 orthopedic disorders.
Cerebral palsy 2.5
Trisomy 21 1.1
Developmental hip dysplasia 1.0
Clubfoot 1.0
Sickle cell disease 0.46
Muscular dystrophy 0.06

2 Causes of
Cause Percentage congenital defects.
From Moore (1988).
Chromosomal aberrations 6

Environmental factors 7

Monogenic or single gene 8

Multifactorial inheritance 25

Unknown 4
 Growth / Congenital Defects 19
Trisomy of sex chromosomes causes 47XXX females who may have only
mild mental retardation, whereas 47XXY causes Klinefelter’s syndrome and
47XYY causes a disorder characterized by aggressive behavior. Trisomy of
autosomes (nonsex chromosomes) is common and frequently affects chro-
mosome 21, which causes Down syndrome [2]. Trisomy 13 and 18 cause
significant defects but are less common.
Chromosomal structural defects occur spontaneously or secondarily to
the effects of teratogens [3]. Teratogens are agents that induce defects
and cause a variety of syndromes. Deletions of portions of chromosomes
4, 5, 18, and 21 produce specific syndromes. For example, deletion of the
terminal portion of the short end of chromosome 5 causes the “cri du chat”
syndrome. Other common changes include translocations, duplications, and
inversions.
Single gene defects may be inherited or produced by spontaneous muta-
tion. Once established, the defect is inherited according to Mendelian laws.
Thus, the individual’s genetic makeup is largely determined by a random
process during meiosis and fertilization.

Chrom. Disorder 1 Chromosome disorder

location. Localization of
1 Rh blood group, Gaucher’s, CTM diseases musculoskeletal disorders to
specific chromosomes.
5 MPS VI, cri du chat syndrome

6 Histocompatibility complex

7 MPS VII, Ehlers–Danlos VII, some Marfan’s

9 ABO typing, nail–patella syndrome

15 Prader–Willi syndrome

X Duchenne dystrophy, chondrodysplasia

2 Down syndrome hip instability. Due to the excessive joint laxity, recurrent dislocations
(arrow) may occur in these children.

3 Chromosome structural
defects. Various structural
defects include inversions,
deletions, and translocations.

Inversion Normal Deletion Translocation

20 Growth / Inherited Disorders

Inherited Disorders
Fertilization restores the diploid number of chromosomes and composites
the traits of both parents. Fertilization may produce an abnormal zygote if
the ovum or sperm carries defective genes. These conditions are transmit-
ted by several mechanisms.
Dominant inheritance results in a disorder caused by a single abnormal
gene [1]. Autosomal dominant conditions usually produce structural ab-
normalities [2 and 3 opposite page]. Variable expressivity and incomplete
penetrance suppress or minimize the expression of dominant inheritance.
Recessive inheritance is expressed only if both gene pairs are affected
[2]. Metabolic or enzymatic defects that cause diseases such as the muco-
polysaccharidoses are often inherited by autosomal recessive inheritance.
X-linked inheritance involves only the X chromosome [3]. In the male,
the genetic inactivity of the Y chromosome allows even the recessive ab-
normal gene of the X chromosome to be manifested. A classic example of
X-linked recessive inheritance is pseudohypertrophic muscular dystrophy.
The female is the carrier, but only male offspring are affected. In reces-
sive X-linked inheritance, the female is affected only in the rare situation in
which both genes of the genetic pair are abnormal.

1 Dominant inheritance. The dominant

Achondroplasia
gene (red) causes structural defects in
Brachydactyly
both parent and offspring. Musculoskeletal
Cleidocranial
disorders transmitted by dominant
dysostosis
inheritance are ­listed.
Marfan syndrome
Multiple epiphyseal
dysplasia
Nail-patella
syndrome
Neurofibromatosis
Polydactyly

2 Recessive inheritance. Carriers of

Congenital the recessive genes (yellow) are expressed
insensitivity to pain (red) only if both gene pairs are abnormal.
Diastrophic dwarfism Musculo-skeletal disorders transmitted by
Gaucher disease recessive inheritance are listed.
Hurler syndrome
Morquio syndrome
Scheie’s syndrome
Hypophosphatasia

3 X-linked inheritance. X-linked

defects (yellow) are carried by the female
X-linked dominant and expressed in the female if the gene is
Vitamin D refractory dominant. Most defects are recessive and
rickets are expressed only in the male (red).

X-linked recessive
Hemophilia
Pseudohypertrophic
muscular dystrophy
 Growth / Inherited Disorders 21
Polygenic inheritance (or multifactorial inheritance) involves multiple genes
and an environmental “trigger” [1]. Such common conditions as hip dysplasia
[4] and clubfeet [5] are transmitted by this mechanism.

Genetic
Other

Disease
Environment

1 Polygenicinheritance. Many common

orthopedic problems are transmitted by this mode.
Genetic, environmental, and possibly other factors
combine to cause the problems.

2 Familial toe deformities. The

mother and child have the same
toe abnormalities. Toe and finger
deformities are often familial.

3 Toe deformities.
These toe deformities are exactly the same in
the mother and child.

4 Hip dysplasia.
Developmental hip dysplasia is a common
condition with a multifactorial etiology.

5 Clubfoot in utero. High-resolution

ultrasound shows a clubfoot deformity. Clubfeet
are common deformities with a multifactorial
etiology.
22 Growth / Abnormal Morphogenesis

Abnormal Morphogenesis
Abnormal morphogenesis is classified into four categories [1].
Malformations are defects that arise in the period of organogenesis and
are of teratogenic or genetic origin. Phocomelia and congenital hypoplasia
[3] are examples.
Dysplasias result from altered growth that occurs before and after birth [2].
Disruptions occur later in gestation when teratogenic, traumatic, or
other physical assaults to the fetus interfere with growth. Ring constriction
due to amniotic banding [2 and 3 opposite page] are examples.

1 Classification of
Normal Development abnormalmorphogenesis. These categories
provide a practical basis for understanding
congenital defects. From Dunne (1986).

Malformation

Disruption

Deformation

Dysplasia

2 Achondroplasia. Achondroplasia is one 3 Limb hypoplasia. Major limb defects are

of many osteochondral dysplasias commonly malformations arising from interruption of limb
seen in orthopedic clinics. develop­ment.
 Growth / Abnormal Morphogenesis 23
Deformations occur at the end of gestation and are due to intrauterine
crowding [1 and 4]. These deformities are milder and usually resolve spon-
taneously during early infancy.
Developmental Deformities
Metabolic disorders such as rickets cause osteopenia and a gradual bow-
ing of long bones.
Inflammatory disorders may damage the growth plate or articular car-
tilage, causing shortening or angular deformity. Less commonly, chronic
inflammation that does not affect the growth plate from conditions such as
rheumatoid arthritis or chronic osteomyelitis may induce hyperemia and
accelerate bone growth, thus causing bone lengthening.

0 25 50 75 100

All deformations

Torticollis

Scoliosis

Dislocation of hip

Genu recurvatum

Club foot

1 Breech position. Common musculoskeletal defects associated with breech

position. From Clarren (1977).

2 Congenital constriction 3 Constriction 4 Molding

bands. Intrauterine bands causing hand deformity. Intrauterine
adhesion caused this deep deformity. Amputation of crowding caused this
circumferential band. the thumb and little finger and calcaneovalgus foot
hypoplasia of the ring finger deformity.
result from bands.
24 Growth / Iatrogenic Deformities

Physical activity may alter bone growth. For example, long-term non-
weight-bearing activity, as was once prescribed in treating Perthes disease,
resulted in slight shortening of the involved leg. Similarly, professional
tennis players who start their careers as children show relative overgrowth
of the dominant upper limb.
Neuromuscular deformity may occur from muscle imbalance such as in
the child with spasticity from cerebral palsy. Adductor spasm positions the
head of the femur on the lateral acetabular rim causing deformity and ero-
sion of the cartilage of the labrum, which in turn causes subluxation and
eventual dislocation of the hip [1]. The combination of contractures, immo-
bility, gravity, and time create the so-called windswept deformity common
in spastic quadraplegia.
Trauma may cause deformity by malunion or growth plate damage [2]. If
the growth plates are not damaged, growth contributes to the correction of
residual malunion deformity through the process of remodeling.
Idiopathic disorders Sometimes the cause of the developmental defor-
mity is not determined [1 opposite page].
Iatrogenic Deformities
The cradleboard, by positioning the infant’s hip in extension, is a known
cause of developmental hip dysplasia [2 opposite page]. In some cultures,
iatrogenic deformities are created in girls to enhance their beauty. Placing
rings around the neck [3 opposite page] of young girls and binding of the
feet [4 opposite page] has produced deformity and severe disability.

1 Hip deformity in cerebral palsy. This boy with

cerebral palsy (left) developed an adduction deformity (red
arrows) and a secondary dislocation (yellow arrow) of the
right hip.

2 Growth arrest lines. This post-traumatic

physeal bridge (black arrow) caused
asymmetrical growth of the distal tibia, as shown
by the growth arrest line (yellow arrows).
 Growth / Iatrogenic Deformities 25

1 Idiopathic growth
acceleration. This girl pictured in the 1940s has
massive overgrowth of the left upper extremity producing
a grotesque disability. The girl died during the operation
to remove the extremity.

2 Cradleboard.
Cradleboards extend the infant’s hips, causing an
increased incidence of hip dysplasia.

3 Thoracic deformity. Rings placed around the neck

in childhood produce constriction of the upper thorax
in the adult woman (Padaung tribe, east Burma). From
Roaff (1961).

Tracing of X-Ray

4 Bound feet. A woman’s feet show the effect of foot binding during childhood. The foot
becomes triangular in shape (left and middle) and small in size so that it fits the shoe (right). The
shoe is less than 6 inches in length.