Sait UÇAR, Esma ALTINEL, Pelin ZORLU, Gülseren ŞAHİN, ATİLLA ÇİFCİ, Candemir KARACAN

Cornelia de lange sendromu: İki olgu

Cornelia de Lange sendromu, karakteristik dismorfik yüz bulguları, üst ekstremite malformasyonları, hirsutizm, kalp defektleri, gelişme geriliği, zeka geriliği, göz ve genitoüriner anomaliler, işitme kaybı ve gastroözofagial disfonksiyon ile karakterize nadir görülen gelişimsel bir bozukluktur. Prevalansı, 1/10.000 ie 1/50.000 arasında değişmekte ve ırk farkı göstermemektedir. Tekrarlayan alt solunum yolu enfeksiyonu ve gelişme geriliği nedeniyle kliniğimize başvuran beş aylık erkek hasta ve büyüme geriliği nedeniyle kliniğimize başvuran üç aylık kız hastaya Cornelia de Lange sendromu tanısı konuldu ve nadir görülmesi nedeniyle sunuldu.

Anahtar Kelimeler:

Kadın, Süt çocuğu, Erkek, Doğumsal anormallikler, Anomaliler, çoklu, De Lange sendromu, Büyüme bozuklukları

Cornelia de lange syndrome: A report of two cases

Cornelia de Lange syndrome is a rarely seen developmental disorder characterized by characteristic dysmorphic facial features, upper-extremity malformations, hirsutism, cardiac defects, failure to thrive, mental retardation, ophthalmologic and genitourinary anomalies, hearing loss, and gastroesophageal dysfunction. Its prevalance has been reported to vary from 1:10.000 to 1:50.000, without any known racial predilection. We presented a 5-month-old male patient who admitted to our clinic because of recurrent lower respiratory tract infections and failure to thrive and a 3-month-old female patient who admitted to our clinic because of growth failure diagnosed as Cornelia de Lange syndrome and reported due to its rarity.

Keywords:

Female, Infant, Male, Congenital Abnormalities, Abnormalities, Multiple, De Lange Syndrome, Growth Disorders,

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