A Korean Family with the Muenke Syndrome
Journal of Korean Medical Science
; : 1086-1089, 2010.
Article
in En
| WPRIM
| ID: wpr-155854
Responsible library:
WPRO
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Pedigree
/
Phenotype
/
Skull
/
Syndrome
/
DNA Mutational Analysis
/
Treatment Outcome
/
Craniosynostoses
/
Asian People
/
Receptor, Fibroblast Growth Factor, Type 3
/
Hypertelorism
Limits:
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
En
Journal:
Journal of Korean Medical Science
Year:
2010
Type:
Article