Cornelia de Lange sendromuna eşlik eden nadir bir konjenital anomali: Yarik dudak-damak A concomitant rare congenital anomaly with Cornelia de Lange syndrome: Cleft lip and palate

Cornelia de Lange sendromu nadir gorulen multi-sistem tutulum gosteren bir sendromdur. Bu sendromun asil ozellikleri, buyume geriligi, gelismede gecikme, hirsutizm, yapisal ust ekstremite anomalileri, mental retardasyon ve karakteristik yuz gorunumudur. Ayrica Cornelia de Lange tanisi konulmus hastalarda nadirde olsa yarik damak, hiatus hernisi, pilor stenozu, ozefagial ve kolonik anomaliler de gozlenebilmektedir. Olgumuz sendromun karakteristik fasiyal ozelliklerini tasiyordu. Fasiyal ozelliklere ek olarak yarik damak ve dudagi vardi. Bu sunumda Cornelia de Lange sendromunda yarik damak ve dudaginda gorulebilecegini vurgulamak ve literaturu gozden gecirmek istedik. Cornelia de Lange syndrome is a rarely seen multisystem disorder. Main clinical features of this syndrome include growth retardation, developmental delay, hirsutism, structural limb abnormalities, mental retardation and characteristic facial feature. Also, cleft palate, hiatus hernia, pyloric stenosis, esophageal anomalies, colonic anomalies can rarely be seen in patients who is diagnosed with Cornelia de Lange syndrome. Our case has characteristic facial and limb feature of syndrome. She has cleft lip and plate in addition to characteristic facial feature. In this presentation, we wanted to emphases that cleft lip and palate can be seen in Cornelia de Lange syndrome and review the literature.