Oculocerebrocutaneous syndrome.
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.
Department of Ophthalmology, Dokuz Eylul University, Izmir, Turkey.
A Osman
AO
Saatci
Gul
G
Arikan
Pinar
P
Saatci
Ysil
Y
Saatci
Salih
S
Kavukcu
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000209:etiology; D003616:Dandy-Walker Syndrome / Q000175:diagnosis; D005124:Eye Abnormalities / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009421:Nervous System Malformations / Q000175:diagnosis*; D012868:Skin Abnormalities / Q000175:diagnosis*; D014057:Tomography, X-Ray Computed