A Case of Apert Syndrome with a P253R Mutation on FGFR2 Exon VIII.
- Author:
Young Jin LEE
1
;
Jung Min KO
;
Seong Shik PARK
;
Chong Kun CHEON
Author Information
1. Department of Pediatrics College of Medicine, Pusan National University, Busan, Korea. chongkun72@paran.com
- Publication Type:Case Report
- Keywords:
Apert syndrome;
Craniofacial malformation;
FGFR2 gene;
P253R mutation
- MeSH:
Acrocephalosyndactylia;
Cleft Palate;
Ear;
Exons;
Eye;
Fingers;
Humans;
Infant;
Joints;
Korea;
Syndactyly;
Toes
- From:Journal of Genetic Medicine
2010;7(2):151-155
- CountryRepublic of Korea
- Language:Korean
-
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.
