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Delayed speech development with facial asymmetry

Article in European Journal of Paediatric Neurology · February 2005

DOI: 10.1016/[Link].2005.05.018 · Source: PubMed

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Katalin Hollody
University of Pécs
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European Journal of Paediatric Neurology (2005) 9, 415–418

[Link]/locate/ejpn

CASE STUDY

Delayed speech development with facial

asymmetry
Katalin Hollodya,*, Katalin Kamposb
a
Department of Paediatrics, Faculty of Medicine, University of Pécs, Pécs, Hungary
b
Department of Paediatrics, Jávorszky Ödön Hospital, Vác, Hungary

Received 20 March 2005

KEYWORDS Summary We report on four unrelated children with delayed speech development
Speech delay; associated with mild facial asymmetry and transverse ear lobe creases. The combination
Facial asymmetry; of these features proved to be familial in one case. Our findings seem to confirm the
Transverse ear lobe existence of a syndrome described by Mehes [(1993) J Med Genet 30:76–77].
crease; Q 2005 Published by Elsevier Ltd on behalf of European Paediatric Neurology Society.
Mehes syndrome

Introduction was complicated by maternal oedema and gluco-

suria. The mother was 33, the father 40 years old at
In 1993 Méhes1 described two sibs with delayed the time of the child’s birth. Gestational age was 36
speech development, facial asymmetry, strabismus weeks, birth weight 2850 g. His perinatal adap-
and transverse ear lobe creases as a possible new tation was normal, but subsequent motor and
syndrome (OMIM 182875).2 To our knowledge, no speech development were delayed. He began to
subsequent cases of this unique constellation of the walk at 2.5 years and had his first words only at the
above mentioned anomalies have been reported. age of 3 years. At the time of admission he was 10
Here, we describe four other patients with this year old, his mental status was in the normal range
condition who were referred to our department (IQ 92 with Budapest–Binet intelligence test), but
because of delayed speech development. he was only lisping and stuttering (Fig. 1).
On physical examination we found an asymme-
trical face, narrow palpebral fissure on the left,
Clinical reports strabismus, apparently low set ears and transverse
ear lobe creases on both sides. There were no minor
Patient 1 anomalies of hands or feet. The neurological status
was normal. His height was148 cm (90th centile),
He was the third child of unrelated parents; no weight 35 kg (75th centile), head circumference
consanguinity is known in the family. The pregnancy 56 cm (75th centile). A plain radiograph of the skull
demonstrated lengthening of the frontooccipital
diameter (24 cm, normal 19 cm) and facial
* Corresponding author. Address: József Attila u. 7., H-7623
asymmetry with thin zygomatic arch on the left
Pécs, Hungary. Tel.: C36 72 535900; fax: C36 72 535971.
E-mail address: [Link]@[Link] (K. Hollody). and maximum transverse horizontal diameter of

1090-3798/$ - see front matter Q 2005 Published by Elsevier Ltd on behalf of European Paediatric Neurology Society.
doi:10.1016/[Link].2005.05.018
416 K. Hollody, K. Kampos

Figure 1 (A and B) A/Patient 1 at 10 years of age. B/The older brother of patient 1 at age 7 years.

the orbits: right 45.0, left 43.0 mm. Skull MRI had neither delayed speech development nor facial
demonstrated normal development of the brain. anomalies. According to our knowledge the
Karyotype was normal, 46,XY normal (G-banding; development of both parents was normal. Fetal
400–450 bands). Deletion of 22q11 was excluded by alcohol syndrome could be excluded confidently.
means of FISH-technique (Fig. 2).
The propositus had two older brothers (20 and 16 Patient 2
years old). The older one had delayed speech
development, similarly to our patient. On his The propositus was a 9-year-old boy. He was the
portrait from the age of 7 years he had facial first child of his unrelated healthy, well qualified
asymmetry, a remarkably narrow eyelid opening, parents. Pregnancy was uneventful, at term the
slight strabismus on the right side and a long child weighed 3650 g. Perinatal adaptation was
philtrum. His height and OFC were normal. He
completed schooling properly. The second brother

Figure 2 Patient 2 at 9 years of age. Figure 3 Patient 3 at 6 years of age.

Delayed speech development with facial asymmetry 417

brothers, whose speech development was normal.

Her face was asymmetric, the left cheek being
more voluminous than the right. On the right side
she had a narrow palpebral fissure, but she could
close her both eyes normally. She had a slight
strabismus on the right side. The function of the
cranial nerves was intact. Maximum transverse
horizontal diameter of the orbits: right 45.7, left
48.0 mm on plain skull film. Chromosomes were
normal, 46,XX normal (G-banding; 400–450 bands).
Her brainstem auditory evoked potentials and
electroencephalographic findings were normal.
Vision and fundi were normal. Brain MRI documen-
ted normal anatomical situation. She had a mild
mental retardation (Snijders–Oomen nonverbal
intelligence test IQ 67). Her speech delay was
more severe than anticipated for IQ (Fig. 4).
Figure 4 Patient 4 at 7 years of age. The patient’s mother and uncle also had a
delayed speech development. The cognitive devel-
normal. Motor development was normal. He began opments of the parents were normal.
to say words at the age of 2.5 years. He had a long
head, remarkable asymmetry of the face, definite Patient 4
ptosis with narrower palpebral fissure on the left,
downslanting palpebral fissures, normal eyelashes, She is the first child of her unrelated, healthy,
strabismus, apparent malar hypoplasia, long phil- developmentally and intellectually normal parents.
trum, a bilateral cowlick, anteverted nares, thin Her birth weight was 3300 g at term. The pregnancy
upper vermilion border. He had a high-arched was uneventful. Her perinatal adaptation was
palate. He had no ear lobe creases, hand, feet, unremarkable. Her motor development was
cardiac or renal anomalies. His height, weight and normal. She was able to say only a few words at
OFC were in the normal range. He had severe the age of 18 months. She was 4 years old when she
learning disability, but his intellectual capacity is in could say simple sentences. Her IQ with the
the normal range (IQ 91 with Budapest–Binet test). Snijders–Oomen nonverbal intelligence test was 67.
His brain MRI is normal (Fig. 3). She had a long head, facial asymmetry, unilateral
His two younger brothers are normal. ptosis, a remarkably narrower palpebral fissure and
a slight strabismus on the left side. She had no
Patient 3 anomalies on the hands and feet. She had normal
cranial nerve functions. The skull film showed the
This 6-year-old girl was born after an uneventful facial asymmetry. Visus and fundi were normal.
pregnancy and spontaneous delivery. Her birth BAEP were normal on both side (Table 1).
weight was 3360 g. Her motor development was Brain MRI documented normal anatomical situ-
normal. She began to say the first words only at the ation. Her chromosomes were normal, 46,XX (G-
age of 3 years. The speech of her mother and of the banding; 400–450 bands). There was no 22q11.2
maternal uncle was fluent, but lisping. She had two microdeletion.

Table 1 Syndrome associated with delayed speech development, facial asymmetry and transverse ear lobe creases
Age (years) Narrow eye Facial/bony Low set ears Ear lobe creases
opening hypoplasia
Patient 1a 10 C C C C
Patient 1b 7 C C C C
Patient 2 9 C C C C
Patient 3 6 C C C C
Patient 4 7 C C C C
 418 K. Hollody, K. Kampos

Discussion anomaly was less expressed than in the syndromes

mentioned above.
Delayed language development has been observed We have not found craniosynostosis or any
in about 40 malformation syndromes and congenital hand/feet abnormalities which are characteristic
metabolic disorders, however, these are character- of Saethre-Chotzen syndrome (acrocephalosyndac-
ised by associated symptoms not seen in our tily type III).
patients. Facial asymmetry, as a part of various FISH studies for a deletion of 22q11 in all cases
skeletal dysplasias and progressive forms of hemi- were negative. The asymmetric crying face syn-
hypertrophy, is a relatively common condition. In drome and the velocardiofacial syndrome could be
our patients, it proved to be a very mild difference exluded in all patients.
noticed on the basis of the unilateral narrowness of We admit that the symptoms of our patients as
the eye slits. This suggested congenital facial palsy well as those of the patients described by Méhes,
(OMIM 134100)2 which could be excluded by the are mild and may easily be overlooked. However,
normal opening and closing the eye-lids. At the the consequent association of the features
same time, measurements of the X-ray pictures observed in children with speech-delay as present-
revealed a real difference in the size of the orbits ing complaint cannot be ignored in our opinion.
and zygomatics, which also speaks against a merely Considering this fact, we conclude that our
functional failure of the cranial nerves, thus also findings confirm the existence of a possibly new
against the various types of hereditary congenital syndrome.
ptosis. The maxillofacial dysostosis described by
Escobar et al.3 and the dominantly transmissed
facial hemihypertrophy described by Burchfield and References
Escobar4 affect the mandibular and maxillar area,
whereas the asymmetry was caused mainly by the 1. Méhes K. Delayed speech development, facial asymmetry,
unequal orbits in our patients. strabismus, and transverse ear lobe creases: a new syndrome?
J Med Genet 1993;30:76–7.
In the mandibulofacialis dysostosis (Treacher-
2. OMIM (Online Mendelian Inheritance in Man): McKusick-
Collins syndrome), the facial abnormalities are Nathans Institute for Genetic Medicine, Johns Hopkins
symmetrical, the ears are malformed and the University (Baltimore, MD) and National Center for Biotech-
eyelashes are absent or sparse. nology Information. National Library of Medicine (Bethesda,
Transverse ear lobe creases are characteristic MD), World Wide Web URL: [Link]
features in the Beckwith-Wiedemann and Goldberg- omim/; 2005.
3. Escobar V, Eastman J, Weaver D, Melinck M. Maxillofacial
Pashayan syndromes (OMIM 130650 and 186350),2 dysostosis. J Med Genet 1977;14:355–8.
which could easily be excluded for the absence of 4. Burchfield D, Escobar V. Familial facial asymmetry (autosomal
their other obligate symptoms. In our patients, this dominant hemihypertrophy?) Oral Surg 1980;50:321–4.

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