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.
Copyright 2002 S. Karger AG, Basel
MeSH terms
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Abnormalities, Multiple
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Acanthosis Nigricans / complications*
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Acanthosis Nigricans / genetics*
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Acanthosis Nigricans / surgery
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Anal Canal / abnormalities*
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Anal Canal / surgery
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Child, Preschool
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Craniosynostoses / complications*
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Craniosynostoses / genetics*
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Craniosynostoses / surgery
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DNA Mutational Analysis
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Female
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Genitalia, Female / abnormalities*
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Genitalia, Female / surgery
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Humans
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Infant
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Magnetic Resonance Imaging
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Point Mutation / genetics*
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Receptor Protein-Tyrosine Kinases / genetics
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Receptor, Fibroblast Growth Factor, Type 1
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Receptor, Fibroblast Growth Factor, Type 2
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Receptors, Fibroblast Growth Factor / genetics
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Syndrome
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Umbilical Cord / abnormalities*
Substances
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Receptors, Fibroblast Growth Factor
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FGFR1 protein, human
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FGFR2 protein, human
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Receptor Protein-Tyrosine Kinases
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Receptor, Fibroblast Growth Factor, Type 1
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Receptor, Fibroblast Growth Factor, Type 2