Serdar CEYLANER, Hatice EKER KOÇAK, Zehra AYCAN

Escobar Sendromlu Bir Olguda Kaş ve Kirpik Yokluğu

Escobar Sendromu eklem hareketlerini kısıtlayan deri katlantıları ve baş, boyun, yüz, omurga ve genital sistemi tutan konjenital anomalilerle karakterize nadir bir hastalıktır. Sıklıkla otozomal resesif kalıtım kalıbı gözlenmekle birlikte, literatürde otozomal dominant ve X’e bağlı formlar da bildirilmiştir. Genellikle doğumda tanı konulabilir.Burada, Escobar sendromunun klinik tablosu ile uyumlu bulguların yanında ek olarak kaş ve kirpik yokluğu olan bir kız hastayı sunuyoruz. Bu bulgular daha önce literatürde bildirilmemiştir.

Anahtar Kelimeler:

Escobar sendromu, web, kaş yokluğu, kirpik yokluğu

THE ABSENT EYEBROWS AND EYELASHES IN THE CASE WITH

Escobar Syndrome is a rare disorder characterized by multiple cutaneous webs limiting joint mobility, and congenital anomalies involving the head, neck, face, vertebrae and genitalia. Although autosomal recessive inheritance is the most common inheritance pattern, autosomal dominant and X-linked types have also been reported in literature. It is usually diagnosable at birth.We report here a female patient with absent eyebrows and eyelashes in addition to clinical picture according with Escobar syndrome. These features were not been reported in the literature before

Keywords:

Escobar syndrome, web, absent eyebrow, absent eyelash,

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