A Korean Family with the Muenke Syndrome.
10.3346/jkms.2010.25.7.1086
- Author:
Jae Eun YU
1
;
Dong Ha PARK
;
Soo Han YOON
Author Information
1. Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea.
- Publication Type:Case Report
- Keywords:
Muenke Syndrome;
FGF3 Gene Mutation;
Autosomal Dominant
- MeSH:
Adult;
Asian Continental Ancestry Group/*genetics;
Child, Preschool;
Craniosynostoses/*genetics/surgery;
DNA Mutational Analysis;
Female;
Humans;
Hypertelorism/genetics;
Korea;
Male;
*Mutation;
Pedigree;
Phenotype;
Receptor, Fibroblast Growth Factor, Type 3/*genetics;
Skull/*abnormalities/surgery;
Syndrome;
Treatment Outcome
- From:Journal of Korean Medical Science
2010;25(7):1086-1089
- CountryRepublic of Korea
- Language:English
-
Abstract:
The Muenke syndrome (MS) is characterized by unicoronal or bicoronal craniosynostosis, midfacial hypoplasia, ocular hypertelorism, and a variety of minor abnormalities associated with a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene. The birth prevalence is approximately one in 10,000 live births, accounting for 8-10% of patients with coronal synostosis. Although MS is a relatively common diagnosis in patients with craniosynostosis syndromes, with autosomal dominant inheritance, there has been no report of MS, in an affected Korean family with typical cephalo-facial morphology that has been confirmed by molecular studies. Here, we report a familial case of MS in a female patient with a Pro250Arg mutation in exon 7 (IgII-IGIII linker domain) of the FGFR3 gene. This patient had mild midfacial hypoplasia, hypertelorism, downslanting palpebral fissures, a beak shaped nose, plagio-brachycephaly, and mild neurodevelopmental delay. The same mutation was confirmed in the patient's mother, two of the mother's sisters and the maternal grandfather. The severity of the cephalo-facial anomalies was variable among these family members.
