Cornelia de Lange Sendromu ve Konjenital Umblikal Herni

Year 2013, , 40 - 42, 01.01.2013

Faik İlik Hüseyin Çaksen

https://doi.org/10.5222/j.child.2013.040

Abstract

Cornelia de Lange sendromu ya da diğer adıyla Brachmann- de Lange sendromu konjenital genetik bir hastalıktır. Sendrom yaklaşık olarak 10.000-50.000 doğumda bir görülür. Birkaç olası gende görülen anormallikler bu kalıt- sal hastalığa neden olmaktadır. NIPBL, SMC1A ve SMC3 genlerindeki mutasyonlar Cornelia de Lange sendromuna neden olabilir. Klinik bulgular bu hastalıkta çok geniş olup, etkilenmiş kişilerde hafif ya da çok şiddetli olabilir. Ek semptom ve bulgular; aşırı vücut kıllanması hirsutizm , mikrosefali, işitme kaybı, kısa boyun ve çeşitli sindirim sistemi sorunlarıdır. Bu sendromla birlikte nöbetler, kalp defektleri, göz sorunları, iskelet anomalileri ve davranış sorunları bildirilmiştir. Cornelia de Lange sendromu’na konjenital umblikal herninin eşlik etmesi bizim bilgimize göre bildirilen ilk vakadır

Keywords

Cornelia de Lange sendromu, konjenital umblikal herni, iskelet anomalileri

Cornelia de Lange Syndrome and Congenital Umbilical Hernia

Abstract

Cornelia de Lange syndrome, also known as Brachmann-de Lange syndrome, is a genetic disorder present from birth. This syndrome likely affects 1 in 10,000 to 50,000 newborns. CDLS is an inherited condition caused by one of several possible abnormalities in the genes. Mutations in the NIPBL, SMC1A, and SMC3 genes can cause Cornelia de Lange syndrome. The features of this disorder vary widely among affected individuals and range from relatively mild to severe. Additional signs and symptoms of Cornelia de Lange syndrome can include excessive body hair hirsutism , mic- rocephaly, hearing loss, short stature, and soruns with the digestive tract. Seizures, heart defects, eye soruns, skeletal abnormalities and behavior soruns also have been reported in people with this condition. This is the first case in our knowledge Cornelia de Lange syndrome assosicated with congenital umbilical hernia

Keywords

Cornelia de Lange syndrome, congenital umbilical hernia, skeletal abnormalities

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