Apert Sendromu

Yıl 2013, Cilt: 7 Sayı: 2, 94 - 95, 01.08.2013

Suzan Gündüz Nihal Demirel Ahmet Yağmur Baş Nurullah Okumuş Ayşegül Zenciroğlu

https://izlik.org/JA29ZD83PN

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

https://izlik.org/JA29ZD83PN

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

• Park WJ, Theda C, Maestri NE, Meyers GA, Fryburg JS, Dufresne C, et al. Analyis of phenotypic features and FGFR2 mutations in Apert Syndrome. Am J Hum Genet 1995;57:321–8.
• Panthaki ZJ, Armstrong MB. Hand abnormalities associated with craniofacial syndromes. J Craniofac Surg 2003;14:709–2.
• Allanson JE. Germinal mosaicism in Apert syndrome. Clinic Genet 1986;29:429–33.
• Rollnick BR. Male transmission of Apert syndrome. Clinic Genet 1988;33:87-90.
• Stal S, Hollier LH, Edwards M. Craniosynostosis syndromes. In: UpToDate, Rose, BD (Ed), UpToDate, Waltham, MA, 2006.
• Kreiborg S, Barr M Jr, Cohen MM Jr. Cervical spine in the Apert Syndrome. Am J Med Genet 1992;43:704–8.
• Hansen WF, Rijhsinghani A, Grant S, Yankowitz J. Prenatal diagnosis of Apert syndrome. Fetal Diagn Ther 2004;19:127-30.