Cornelia de Lange Sendromu:Ektromelia’lı Bir Olgu Sunumu

Yıl 2014, - Olgu Ek Sayısı - 2014, 3 - 5, 24.09.2014

Tülay Tos Muhammed Alp Reşat Doğusan

https://doi.org/10.17098/amj.55585

Öz

Özet

Cornelia de Lange sendromu (CDL) karekteristik atipik yüz bulguları, prenatal ve postnatal gelişme geriliği ve zeka geriliği ile karakterizedir. Diğer bir adı Brachman de Lange sendromu diye geçmektedir. 1/10000-1/60000 sıklığında görülür. Polikliniğimize atipik yüz ve konjenital anomalileri olması nedeniyle başvuran 4 aylık kız hastaya CDL tanısı konuldu ve bu sendromun nadir görülmesi nedeniyle sunuldu.

Anahtar Kelimeler

Cornelia de Lange sendromu, ektromelia, konjenital malformasyonlar

Cornelia de Lange Syndrome: A Case Report with Ectromelia

Öz

Cornelia de Lange syndrome (CDL), also known as Brachman de Lange syndrome, is characterised by distinct facial features, prenatal and postnatal developmental delay, and mental retardation. It has an incidence between 1/10000 and 1/60000. A four-month-old female patient with dysmorphic face and congenital malformations was diagnosed with CDL, and here presented because of the rare manifestations. Key-words: Cornelia de Lange syndrome, ectromelia, congenital malformations

Anahtar Kelimeler

Cornelia de Lange syndrome, ectromelia, congenital malformations

Kaynakça

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