title: The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene.
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.
authors: Department of Pediatrics, College of Medicine, Korea University, Seoul, Korea.
authors: So-Hee
authors: SH
authors: Eun
authors: Ki Ssu
authors: KS
authors: Ha
authors: Bo-Kyung
authors: BK
authors: Je
authors: Eung Seok
authors: ES
authors: Lee
authors: Byung Min
authors: BM
authors: Choi
authors: Jung Hwa
authors: JH
authors: Lee
authors: Baik-Lin
authors: BL
authors: Eun
authors: Kee Hwan
authors: KH
authors: Yoo
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics; D003398:Craniosynostoses / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007723:Korea; D008297:Male; D009154:Mutation; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D013577:Syndrome
chemical_list: C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2