Apert Sendromu

Öz

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

Öz

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

Anahtar Kelimeler

• Apert syndrome, Choanal hypoplasia, Craniosynostosis, Syndacty

Kaynakça

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7. Hansen WF, Rijhsinghani A, Grant S, Yankowitz J. Prenatal diagnosis of Apert syndrome. Fetal Diagn Ther 2004;19:127-30.