Oculocerebrocutaneous syndrome

Saatci A. O., Arikan G., Saatci P., Saatci Y., KAVUKÇU S.

JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS, vol.45, no.3, pp.181-183, 2008 (SCI-Expanded) identifier identifier identifier


The authors describe a patient with oculocerebrocutaneous syndrome, also called Delleman-Oorthuys syndrome. This patient is the first reported case in Turkey. The 19-month-old boy had characteristic features of oculocerebrocutaneous syndrome, such as unilateral orbital cyst, skin tags and skin hypoplasia, hypoplastic left cerebellar hemisphere, Dandy-Walker variant anomaly, corpus callosum agenesis, and left cerebral hemispheric diffuse migration anomaly.