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A Korean Family with the Muenke Syndrome.

Authors
Yu, JE; Park, DH; Yoon, SH
Citation
Journal of Korean medical science, 25(7):1086-1089, 2010
Journal Title
Journal of Korean medical science
ISSN
1011-89341598-6357
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.
DOI
10.3346/jkms.2010.25.7.1086
PMID
20592905
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Neurosurgery
Journal Papers > School of Medicine / Graduate School of Medicine > Plastic & Reconstructive Surgery
AJOU Authors
박, 동하윤, 수한
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