The First Korean Case of Beare-Stevenson Syndrome with a Tyr375Cys Mutation in the Fibroblast Growth Factor Receptor 2 Gene
Journal of Korean Medical Science
;
: 352-356, 2007.
Article
Dans Anglais
| WPRIM
| ID: wpr-111552
ABSTRACT
Here we report the first case of a Korean infant with a cloverleaf-shaped craniosynostosis, in which the diagnosis of Beare-Stevenson syndrome was suspected upon observation of the typical morphological features. This infant exhibited craniofacial anomalies, ocular proptosis, cutis gyrata, acanthosis nigricans, prominent umbilical stump, furrowed palms and soles, hypospadia, and sacral skin tag coupled with dermal sinus tract. Brain magnetic resonance imaging revealed that the patient also had non-communicating hydrocephalus with Chiari malformation. This is the 8th report of Beare-Stevenson syndrome in the literature, which was confirmed by the detection of a Tyr375Cys mutation in the fibroblast growth factor receptor 2 (FGFR2) gene.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Syndrome
/
Malformations multiples
/
Analyse de mutations d'ADN
/
Malformations crâniofaciales
/
Prédisposition génétique à une maladie
/
Craniosynostoses
/
Polymorphisme de nucléotide simple
/
Récepteur FGFR2
/
Corée
/
Mutation
Limites du sujet:
Humains
/
Mâle
/
Nouveau-né
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Journal of Korean Medical Science
Année:
2007
Type:
Article
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