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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Receptor, Fibroblast Growth Factor, Type 2
Spina Bifida Occulta
Acanthosis Nigricans
Umbilicus
Craniosynostoses
Mutation
Exophthalmos
Hydrocephalus
Genes
Magnetic Resonance Imaging
Observation
Skin
Brain

Keywords

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

ASJC Scopus subject areas

  • Medicine(all)

Cite this

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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.",
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author = "So-Hee Eun and Ki, {Ssu Ha} and Bo-Kyung Je and Lee, {Eung Seok} and Choi, {Byung Min} and Lee, {Jung Hwa} and Baik-Lin Eun and Yoo, {Kee Hwan}",
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AU - Eun, So-Hee

AU - Ki, Ssu Ha

AU - Je, Bo-Kyung

AU - Lee, Eung Seok

AU - Choi, Byung Min

AU - Lee, Jung Hwa

AU - Eun, Baik-Lin

AU - Yoo, Kee Hwan

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N2 - 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.

AB - 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.

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