J Genet Med.  2010 Dec;7(2):151-155.

A Case of Apert Syndrome with a P253R Mutation on FGFR2 Exon VIII

Affiliations
  • 1Department of Pediatrics College of Medicine, Pusan National University, Busan, Korea. chongkun72@paran.com
  • 2Department of Medical Genetics, Ajou University Hospital, Suwon, Korea.

Abstract

Apert syndrome is a rare congenital anomaly characterized by craniofacial malformations and severe symmetrical syndactyly of fingers and toes. This syndrome is caused by a genetic mutation; the S253 mutation is common, though the P253R mutation is not as frequent. Common symptoms include skeletal malformations, poor joint mobility, eye and ear problems, cleft palate, and orthodontic and other dental problems. We report a case of an infant with the common morphological features of Apert syndrome. Interestingly, she was found to have the P253R mutation in FGFR2 exon VIII, which has been less commonly observed in Korea. A brief review of the literature is included.

Keyword

Apert syndrome; Craniofacial malformation; FGFR2 gene; P253R mutation
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