A Korean Family with the Muenke Syndrome
Journal of Korean Medical Science
;
: 1086-1089, 2010.
Article
Dans Anglais
| WPRIM
| ID: wpr-155854
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Phénotype
/
Crâne
/
Syndrome
/
Analyse de mutations d'ADN
/
Résultat thérapeutique
/
Craniosynostoses
/
Asiatiques
/
Récepteur de type 3 des facteurs de croissance fibroblastique
/
Hypertélorisme
Limites du sujet:
Adulte
/
Enfant d'âge préscolaire
/
Femelle
/
Humains
/
Mâle
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Journal of Korean Medical Science
Année:
2010
Type:
Article
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