The first Korean case of Beare-Stevenson Syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene

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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.

Original languageEnglish
Pages (from-to)352-356
Number of pages5
JournalJournal of Korean Medical Science
Volume22
Issue number2
Publication statusPublished - 2007 Apr 1

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Keywords

  • Beare-Stevenson syndrome
  • Craniosynostosis
  • FGFR2 gene
  • Mutation

ASJC Scopus subject areas

  • Medicine(all)

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