an 11-year-old boy was referred to us for further investigation because he had dysmorphic features and was mentally challenged. he was the first child of healthy, non-consanguineous parents. he was born with a low birth weight of 1300g, length of 44cm and a head circumference of 32cm. there was a significant delay in developmental milestones. on clinical examination, he had a slender body weigh...

Duane (I905) emphasized six features of a characteristic congenital ocular motility syndrome: (i) Complete, or less often partial, loss of abduction of the affected eye; (2) Partial, or rarely complete, restriction of adduction of the aHected eye; (3) Retraction of the affected eye into the orbit on adduction; (4) Oblique overshoot of the affected eye either up and in or down and in on adductio...

Möbius' syndrome, also known as Möbius' sequence, is a nonprogressive cranial dysinnervation disorder characterized by congenital facial and abducens nerve paralysis. Here, we report a 5-day-old girl who was conceived after in vitro fertilization with poor suck and facial paralysis. She had bilaterally ptosis and lateral gaze limitation, left-sided deviation of the tongue, dysmorphic face, hypo...

Noonan syndrome occurs in about one per 2000 live births [1]. The males and females are affected equally. The disorder is usually sporadic, but presents also with dominant inheritance. The main features of Noonan syndrome are characteristic facial changes, such as: triangular face, hypertelorism, epicanthus, downward palpebral fissures, ptosis, micrognathia, low-set ears with thickened helices;...

Amblyopia is a unilateral or bilateral reduction of visual acuity secondary to abnormal visual experience during early childhood. It is one of the most common causes of vision loss and monocular blindness and is commonly associated with strabismus, anisometropia, and visual deprivation (in particular congenital cataract and ptosis). It is clinically defined as a two-line difference of best-corr...

Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) (BRWS; MIM #243310, 614583) is a rare developmental disorder affecting multiple organ systems. It is characterised by intellectual disability (mild to severe) and distinctive facial appearance (metopic ridging/trigonocephaly, bilateral ptosis, hypertelorism). The additional presence of cortical malformations (pachygyria/lissencephaly) and oc...