Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies

Clinical Features

Microphthalmia with cyst (see 251505) is the least common type of microphthalmia and is unilateral in 70% of cases. It occurs when the ocular embryonic fissure fails to close at the 4-week stage. The cyst forms as the inner and outer layers of the optic vesicle continue to grow and differentiate at the margin of the embryonic fissure. Gupta et al. (2003) described a patient with bilateral microphthalmia with cyst, limb anomalies, and multiple facial malformations. The patient showed features of Waardenburg ophthalmoacromelic syndrome (206920), cerebrooculonasal syndrome (605627), and craniotelencephalic dysplasia (218670), but he did not show the complete pattern of any of these syndromes. The only limb anomalies were 'chubby' proximal phalanges of the hands and small feet. Gupta et al. (2003) considered it possible that the patient had an undescribed syndrome most closely related to cerebrooculonasal syndrome with malformations outside the craniofacial region. No other member of the family had similar anomalies. The parents were not consanguineous.