title: A Korean family with the Muenke syndrome.
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.
authors.affiliation: Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea.
authors.forename: Jae Eun
authors.initials: JE
authors.lastname: Yu
authors.forename: Dong Ha
authors.initials: DH
authors.lastname: Park
authors.forename: Soo Han
authors.initials: SH
authors.lastname: Yoon
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D002675:Child, Preschool; D003398:Craniosynostoses / Q000235:genetics* / Q000601:surgery; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000235:genetics; D007723:Korea; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*; D012886:Skull / Q000002:abnormalities* / Q000601:surgery; D013577:Syndrome; D016896:Treatment Outcome
chemical_list: D051498:Receptor, Fibroblast Growth Factor, Type 3