Abstract
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.
References
- 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.
Abstract
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
References
- 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.
Details
| Other ID | JA76DE43SH |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | August 1, 2013 |
| Submission Date | August 1, 2013 |
| Published in Issue | Year 2013 Volume: 7 Issue: 2 |
The publication language of Turkish Journal of Pediatric Disease is English.
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