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KMID : 0191120070220020352
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Journal of Korean Medical Science
2007 Volume.22 No. 2 p.352 ~ p.356
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The First Korean Case of Beare-Stevenson Syndrome with a Tyr375Cys Mutation in the Fibroblast Growth Factor Receptor 2 Gene
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Eun So-Hee
Ha Kee-Soo
Je Bo-Kyung
Lee Eung-Seok
Choi Byung-Min
Lee Jung-Hwa
Eun Baik-Lin
Yoo Kee-Hwan
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Abstract
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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.
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KEYWORD
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Craniosynostosis, Beare-Stevenson Syndrome, Mutation, FGFR2 Gene
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