Article
A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype.
Clinical dysmorphology - 1 Apr 2006
McGaughran Julie, Sinnott Stephen, Susman Rachel, Buckley Michael F, Elakis George, Cox Timothy, Roscioli Tony
Abstract excerpt
We present a case of Beare-Stevenson syndrome with a broad range of phenotypic features including craniosynostosis, cutis gyrata, choanal stenosis, bifid scrotum with perineal hypospadias and a caudal appendage. The paternal age at the time of conception was 62 years consistent with a paternal age effect. Mutation analysis was undertaken and demonstrated the FGFR2 Y375C mutation. This case, one of only nine with...
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