Ayşegül ZENCİROĞLU, Nurullah OKUMUŞ, Ahmet Yağmur BAŞ, Suzan GÜNDÜZ, Nihal DEMİREL

Apert Sendromu

Apert sendromu kraniyosinostoz, hipertelorizm, el ve ayaklarda ağır sindaktili, kalp ve böbrek anomalileri ile karakterize bir hastalık olup 10. kromozomda yer alan (10q26) fibroblast büyüme faktörü reseptör (FGFR2) geninin mutasyonu sonucu gelişir. Bu yazıda, kraniyosinositoz, el ve ayaklarda ağır sindaktili, bilateral koanal stenozu olan bir Apert sendromu olgusunu sunduk.

Anahtar Kelimeler:

Apert sendromu, Koanal hipolazi, Kranyosinoztozis, Sindaktili

Apert Syndrome

Apert syndrome is characterized by craniosynostosis, hypertelorism, severe syndactyly of the hands and feet, and cardiac and renal abnormalities and develops as a result of a mutation in the fibroblast growth factor receptor genes (FGFR2) located on chromosome 10 (10q26). Here, we present a case of Apert’s syndrome with craniosynostosis, severe syndactyly of the hands and feet, and bilateral choanal stenosis

Keywords:

Apert syndrome, Choanal hypoplasia, Craniosynostosis, Syndacty,

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