A Korean family with the Muenke syndrome.
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.
Yu
Jae Eun
JE
Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea.
Park
Dong Ha
DH
Yoon
Soo Han
SH
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
D051498:Receptor, Fibroblast Growth Factor, Type 3