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

Year 2015, , 155 - 157, 01.05.2015

Ramazan Özdemir Ferhat Çatal Kazım Kutlutürk Erdem Topal Yeşim Kutlutürk Ahmet Karadağ

https://doi.org/10.5505/abantmedj.2015.88700

Abstract

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.

Keywords

Cornelia de Lange syndrome, cleft lip, cleft palate

Cornelia de Lange sendromuna eşlik eden nadir bir konjenital anomali: Yarık dudak-damak

Abstract

Cornelia de Lange sendromu nadir görülen multi-sistem tutulum gösteren bir sendromdur. Bu sendromun asıl özellikleri, büyüme geriliği, gelişmede gecikme, hirsutizm, yapısal üst ekstremite anomalileri, mental retardasyon ve karakteristik yüz görünümüdür. Ayrıca Cornelia de Lange tanısı konulmuş hastalarda nadirde olsa yarık damak, hiatus hernisi, pilor stenozu, özefagial ve kolonik anomaliler de gözlenebilmektedir. Olgumuz sendromun karakteristik fasiyal özelliklerini taşıyordu. Fasiyal özelliklere ek olarak yarık damak ve dudağı vardı. Bu sunumda Cornelia de Lange sendromunda yarık damak ve dudağında görülebileceğini vurgulamak ve literatürü gözden geçirmek istedik.

Keywords

Cornelia de Lange sendromu, yarık dudak, yarık damak

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