1.A Korean Family with the Muenke Syndrome.
Jae Eun YU ; Dong Ha PARK ; Soo Han YOON
Journal of Korean Medical Science 2010;25(7):1086-1089
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.
Adult
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Asian Continental Ancestry Group/*genetics
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Child, Preschool
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Craniosynostoses/*genetics/surgery
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DNA Mutational Analysis
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Female
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Humans
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Hypertelorism/genetics
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Korea
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Male
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*Mutation
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Pedigree
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Phenotype
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Receptor, Fibroblast Growth Factor, Type 3/*genetics
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Skull/*abnormalities/surgery
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Syndrome
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Treatment Outcome