A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene

Takuya Akai; Hideaki Iizuka; Miyuki Kishibe; Shigehiko Kawakami; Azusa Kobayashi; Tetsuo Ozawa

doi:10.1159/000065112

A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene

Takuya Akai^*, Hideaki Iizuka, Miyuki Kishibe, Shigehiko Kawakami, Azusa Kobayashi, Tetsuo Ozawa

^*Corresponding author for this work

Neurosurgery

Research output: Contribution to journal › Article › peer-review

22 Scopus citations

Abstract

This paper reports a case of Beare-Stevenson cutis gyrata syndrome confirmed by DNA analysis of the patient's fibroblast growth factor receptor (FGFR) genes. At birth, the patient had ocular proptosis, a red nevus with skin tags on her forehead and an umbilical stump. She developed craniosynostosis, craniofacial dysmorphism and hydrocephalus. Her treatment included forehead and facial advancement and a ventriculoperitoneal shunt. Analysis of the FGFR genes revealed that she was heterozygous for a missense mutation in exon 10 for the FGFR2 protein, resulting in an amino acid substitution of cysteine for tyrosine at residue 375 (Tyr375Cys). This is the fourth case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the FGFR genes.

Original language	English
Pages (from-to)	97-99
Number of pages	3
Journal	Pediatric Neurosurgery
Volume	37
Issue number	2
DOIs	https://doi.org/10.1159/000065112
State	Published - 2002

Keywords

Beare-Stevenson cutis gyrata syndrome
Craniosynostosis
Fibroblast growth factor receptor gene

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Surgery
Clinical Neurology

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10.1159/000065112

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title = "A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene",

abstract = "This paper reports a case of Beare-Stevenson cutis gyrata syndrome confirmed by DNA analysis of the patient's fibroblast growth factor receptor (FGFR) genes. At birth, the patient had ocular proptosis, a red nevus with skin tags on her forehead and an umbilical stump. She developed craniosynostosis, craniofacial dysmorphism and hydrocephalus. Her treatment included forehead and facial advancement and a ventriculoperitoneal shunt. Analysis of the FGFR genes revealed that she was heterozygous for a missense mutation in exon 10 for the FGFR2 protein, resulting in an amino acid substitution of cysteine for tyrosine at residue 375 (Tyr375Cys). This is the fourth case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the FGFR genes.",

keywords = "Beare-Stevenson cutis gyrata syndrome, Craniosynostosis, Fibroblast growth factor receptor gene",

author = "Takuya Akai and Hideaki Iizuka and Miyuki Kishibe and Shigehiko Kawakami and Azusa Kobayashi and Tetsuo Ozawa",

year = "2002",

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T1 - A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene

AU - Akai, Takuya

AU - Iizuka, Hideaki

AU - Kishibe, Miyuki

AU - Kawakami, Shigehiko

AU - Kobayashi, Azusa

AU - Ozawa, Tetsuo

PY - 2002

Y1 - 2002

N2 - This paper reports a case of Beare-Stevenson cutis gyrata syndrome confirmed by DNA analysis of the patient's fibroblast growth factor receptor (FGFR) genes. At birth, the patient had ocular proptosis, a red nevus with skin tags on her forehead and an umbilical stump. She developed craniosynostosis, craniofacial dysmorphism and hydrocephalus. Her treatment included forehead and facial advancement and a ventriculoperitoneal shunt. Analysis of the FGFR genes revealed that she was heterozygous for a missense mutation in exon 10 for the FGFR2 protein, resulting in an amino acid substitution of cysteine for tyrosine at residue 375 (Tyr375Cys). This is the fourth case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the FGFR genes.

AB - This paper reports a case of Beare-Stevenson cutis gyrata syndrome confirmed by DNA analysis of the patient's fibroblast growth factor receptor (FGFR) genes. At birth, the patient had ocular proptosis, a red nevus with skin tags on her forehead and an umbilical stump. She developed craniosynostosis, craniofacial dysmorphism and hydrocephalus. Her treatment included forehead and facial advancement and a ventriculoperitoneal shunt. Analysis of the FGFR genes revealed that she was heterozygous for a missense mutation in exon 10 for the FGFR2 protein, resulting in an amino acid substitution of cysteine for tyrosine at residue 375 (Tyr375Cys). This is the fourth case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the FGFR genes.

KW - Beare-Stevenson cutis gyrata syndrome

KW - Craniosynostosis

KW - Fibroblast growth factor receptor gene

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A case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene

Abstract

Keywords

ASJC Scopus subject areas

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