Bülent ORAN, Özlem BİLGİÇ, Eyüp ASLAN, Osman GÜVENÇ, Derya ÇİMEN, Derya ARSLAN

Çocuklarda Nadir Görülen Bir Hastalık: Goltz Sendromu

Goltz sendromu (Fokal dermal hipoplazi), mezoektodermal dokuyu tutan ve çok nadir görülen bir hastalıktır. Deri lezyonları ile birlikte iskelet sistemi, dental ve oküler anomaliler, hastaların az bir kısmında da kalp ve böbrek anomalileri görülebilmektedir. Makalede, Goltz sendromu tanısı alan, biküspit aort kapağı ve buna bağlı aort kapak darlığı ve yetmezliği olan beş yaşındaki kız hasta olgu olarak sunuldu ve seyrek görülen bu hastalık, son literatür bilgileri eşliğinde tartışıldı.

Anahtar Kelimeler:

Çocuk, Fokal dermal hipoplazi, Goltz sendromu

A Rare Disease in Children: Goltz Syndrome

Goltz Syndrome (focal dermal hypoplasia) is a rare disease that is characterized by mesoectodermal tissue abnormalities. In addition to cutaneous lesions, there may be skeletal, dental, and ocular defects as well as cardiac and renal abnormalities in a minority of patients. In this article, a 5-year-old girl with aortic stenosis and regurgitation related to bicuspid aortic valve and diagnosed with Goltz Syndrome is presented. This rare syndrome has been discussed with the help of the recent literature

Keywords:

Child, Focal dermal hypoplasia, Goltz syndrome,

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