A Case of Apert Syndrome with a P253R Mutation on FGFR2 Exon VIII
Journal of Genetic Medicine
;
: 151-155, 2010.
Article
Dans Coréen
| WPRIM
| ID: wpr-6880
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Acrocéphalosyndactylie
/
Orteils
/
Exons
/
Fente palatine
/
Syndactylie
/
Oreille
/
Oeil
/
Doigts
/
Articulations
/
Corée
Limites du sujet:
Humains
/
Bébé
Pays comme sujet:
Asie
langue:
Coréen
Texte intégral:
Journal of Genetic Medicine
Année:
2010
Type:
Article
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