Erdem TOPAL, Ramazan ÖZDEMİR, Ferhat ÇATAL, Kazım KUTLUTÜRK, Yeşim KUTLUTÜRK, Ahmet KARADAĞ

Cornelia de Lange sendromuna eşlik eden nadir bir kon jenital anomali: Yarık dudak -da mak

Cornelia de Lange sendromu nadir görülen multi -sistemtutulum gösteren bir sendromdur. Bu sendromun asılözellikleri, büyüme geriliği, gelişmede gecikme, hirsutizm,yapısal üst ekstremite anomalileri, mental retardasyon vekarakteristik yüz görünümüdür. Ayrıca Cornelia de Langetanısı konulmuş hastala rda nadirde olsa yarık damak,hiatus hernisi, pilor stenozu, özefagial ve kolonikanomaliler de gözlenebilmektedir. Olgumuz sendromunkarakteristik fasiyal özelliklerini taşıyordu. Fasiyalözelliklere ek olarak yarık damak ve dudağı vardı. Busunumda Corne lia de Lange sendromunda yarık damak vedudağında görülebileceğini vurgulamak ve literatürügözden geçirmek istedik.

A concomitant rare congenital anomaly with Cornelia de Lange syndrome: Cleft lip and palate

Cornelia de Lange syndrome is a rarely seen multisystemdisorder. Main clinical features of this syndrome includegrowth retardation, developmental delay, hirsutism,structural limb abnormalities, mental retardation andcharacteristic facial feature. Also, cleft palate, hiatus hernia,pyloric stenosis, esophageal anomalies, colonic anomaliescan rarely be seen in patients who is diagnose d withCornelia de Lange syndrome. Our case has characteristicfacial and limb feature of syndrome. She has cleft lip andplate in addition to characteristic facial feature. In thispresentation, we wanted to emphases that cleft lip andpalate can be seen in Cornelia de Lange syndrome andreview the literature.

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