Oculocerebrocutaneous syndrome

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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)

• Publication Type: Article / Article
• Volume: 45 Issue: 3
• Publication Date: 2008
• Doi Number: 10.3928/01913913-20080501-19
• Journal Name: JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Page Numbers: pp.181-183
• Hacettepe University Affiliated: Yes

Abstract

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.