The first Korean case of Beare-Stevenson syndrome with a Tyr375Cys mutation in the fibroblast growth factor receptor 2 gene.
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.
Eun
So-Hee
SH
Department of Pediatrics, College of Medicine, Korea University, Seoul, Korea.
Ha
Ki Ssu
KS
Je
Bo-Kyung
BK
Lee
Eung Seok
ES
Choi
Byung Min
BM
Lee
Jung Hwa
JH
Eun
Baik-Lin
BL
Yoo
Kee Hwan
KH
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
C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2