However, true hypertelorism
is seen in only 5% of patients.
The facial dysmorphology associated with NS such as hypertelorism
, epicanthic folds and downward slanting palpebral fissures, low-set posteriorly rotated ears with a thick helix, high arched palate, micrognathia, and a short neck with excess nuchal skin and a low posterior hairline are the most recognizable features.
The Syndrome is characterized by more frequent abnormalities includes mental deficiency may be present (but normal intelligence has been observed) Craniofacial abnormalities (like Craniosynostosis, Flat facies, shallow orbits, hypertelorism
, strabismus, maxillary hpoplasia, Small nose, Narrow palate with or without cleft palate, Pseudomandibular progranathism and crowding of teeth).
She had atypical facial features (midface hypoplasia, hypertelorism
, craniosynostosis, brachycephaly, maxillary hypoplasia, exophthalmos, bilateral distinctive and low-set ears), lateral nystagmus on the bilateral eyes, and widespread acanthosis nigricans on all of curve regions as neck, bilateral axillae (Figure 1).
Other features were Frontal bossing, contractures of fingers, joint laxity, hypertelorism
, residual cleft palate 2x1cm and bifid uvula.
His mother and grandmother manifested only minimal signs and symptoms, which included hypertelorism
, mandibular enlargement, and palmar and plantar pitting.
A newly recognized autosomal dominant disorder involving hypertelorism
, preauricular sinus, punctal pits, and deafness mapping to chromosome 14q31.
Craniosynostosis (2,9) with short and broad head, Exophthalmos, hypertelorism
(greater than normal distance between eyes), Psittichorhina (beak like nose), Hypoplastic maxilla (insufficient growth of mid face) result in prognathism (chin appears to protrude despite normal growth of mandible).
Radiograph of skull AP/lateral view was taken and revealed: Hypertelorism
macrocephaly and widened anterior fontanelle.
Mobius syndrome is also associated with the limb malformations like club foot, syndactyly, brachydactyly and craniofacial abnormalities like small palpable fissure, hypertelorism
, external ear defects, micrognathia less frequently.
The manifestations of this syndrome include Lentigines, Electrocardiographic conduction defects, Ocular hypertelorism
, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness.
Baby had a coarse and edematous facies with frontal bossing, mid facial hypoplasia, hypertelorism
with prominent eyes, depressed nasal bridge, low set ears and high arched palate.