| A Case of Apert`s Syndrome(Acrocophalosyndactyly) with Fibroblast Growth Factor Receptor 2 Exon Ⅲa Mutation |
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Hyung Su K, Pyl Soon Yang, Jee Yeoun Kang, Ok Young Kim, Chul Hae Ku, Wha Mo Lee |
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Department of Pediatrics, Pusan Medical Center, Pusan, Korea |
| Apert 증후군에서 Fibroblast Growth Factor Receptor 2 EXON Ⅲa 돌연변이 1례 |
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김형수, 양필순, 강지연, 김옥영, 구철회, 이화모 |
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부산의료원 소아과 |
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| Abstract |
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Apert syndrome is an uncommon congenital disorder characterized by malformation of the skull in association with symmetrical syndactyly of both hands and feet. This syndrome is autosomal dominant. The original description was presented by Apert in 1906. Since then more than 200 cases have been reported in the world. Recently, we experienced a case of newhorn male infant with congenital anomalies of the skull and extremities. Molecular biologically, he was found to have Ser252Try mutation in the FGFR2 exonⅢa. A brief review of literature was made. |
| Key Words:
Apert Syndrome, Acrocephalosyndactyly, Fibroblast growth factor receptor 2 gene(FGFR2) |
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