Oculocerebrocutaneous syndrome

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Atıf İçin Kopyala

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

JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS, cilt.45, sa.3, ss.181-183, 2008 (SCI-Expanded)

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 45 Sayı: 3
• Basım Tarihi: 2008
• Doi Numarası: 10.3928/01913913-20080501-19
• Dergi Adı: JOURNAL OF PEDIATRIC OPHTHALMOLOGY & STRABISMUS
• Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Sayfa Sayıları: ss.181-183
• Hacettepe Üniversitesi Adresli: Evet

Özet

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.