J Korean Med Sci.  2010 Jul;25(7):1086-1089. 10.3346/jkms.2010.25.7.1086.

A Korean Family with the Muenke Syndrome

• Yu JE
• Park DH
• Yoon SH

• KMID: 1792963
• DOI: http://doi.org/10.3346/jkms.2010.25.7.1086

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.

Keyword

Muenke Syndrome; FGF3 Gene Mutation; Autosomal Dominant

MeSH Terms

Adult
Asian Continental Ancestry Group/*genetics
Child, Preschool
Craniosynostoses/*genetics/surgery
DNA Mutational Analysis
Female
Humans
Hypertelorism/genetics
Korea
Male
*Mutation
Pedigree
Phenotype
Receptor, Fibroblast Growth Factor, Type 3/*genetics
Skull/*abnormalities/surgery
Syndrome
Treatment Outcome

Figure

• 

  Fig. 1 Clinical and radiological features of a patient with the Muenke syndrome and FGFR3 mutation. (A) A 24 month-old girl with Pro250Arg shows mild exophthalmos and plagio-brachycephaly. (B) Both coronal sutures are completely fused. (C) Proptosis and a small cerebellum were present on the sagittal view of the MR-T1WI.

• 

  Fig. 2 Photography and family pedigree. (A) The patient and her mother with a Pro250Arg mutation. The mother also had mild midfacial hypoplasia, hypertelorism, and downslanting palpebral fissures. (B) Pedigree of the family with Muenke syndrome demonstrates an autosomal dominant inheritance.

• 

  Fig. 3 DNA sequencing showed a heterozygous mutation in the patient (C to G) of FGFR3 in exon 7. This mutation caused an amino acid substitution of arginine (CGG) for proline (CCG) [p.Pro250Arg, c.749 C>G)].

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