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.
authors.affiliation: Department of Neurosurgery, Kanazawa Medical University, 1-1 Daigaku, Uchinda, Kahokugun, Ishikawa 920-0293, Japan. akai@kanazawa-med.ac.jp
authors.forename: Takuya
authors.initials: T
authors.lastname: Akai
authors.forename: Hideaki
authors.initials: H
authors.lastname: Iizuka
authors.forename: Miyuki
authors.initials: M
authors.lastname: Kishibe
authors.forename: Shigehiko
authors.initials: S
authors.lastname: Kawakami
authors.forename: Azusa
authors.initials: A
authors.lastname: Kobayashi
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Ozawa
mesh_terms: D000015:Abnormalities, Multiple; D000052:Acanthosis Nigricans / Q000150:complications* / Q000235:genetics* / Q000601:surgery; D001003:Anal Canal / Q000002:abnormalities* / Q000601:surgery; D002675:Child, Preschool; D003398:Craniosynostoses / Q000150:complications* / Q000235:genetics* / Q000601:surgery; D004252:DNA Mutational Analysis; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities* / Q000601:surgery; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D017354:Point Mutation / Q000235:genetics*; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D051496:Receptor, Fibroblast Growth Factor, Type 1; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D013577:Syndrome; D014470:Umbilical Cord / Q000002:abnormalities*
chemical_list: D017468:Receptors, Fibroblast Growth Factor; C496348:FGFR1 protein, human; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051496:Receptor, Fibroblast Growth Factor, Type 1; D051497:Receptor, Fibroblast Growth Factor, Type 2