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J Korean Med Sci. 2010 Jul;25(7):1086-9. doi: 10.3346/jkms.2010.25.7.1086. Epub 2010 Jun 17.

A Korean family with the Muenke syndrome.

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1
Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea.

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.

KEYWORDS:

Autosomal Dominant; FGF3 Gene Mutation; Muenke Syndrome

PMID:
20592905
PMCID:
PMC2890890
DOI:
10.3346/jkms.2010.25.7.1086
[Indexed for MEDLINE]
Free PMC Article
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