A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype.
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 molecular analysis, confirms the significant morbidity associated with this syndrome.
Queensland Clinical Genetics Service, Royal Children's Hospital, Herston, Brisbane 4029, Queensland, Australia. Julie_McGaughran@health.qld.gov.au
Julie
J
McGaughran
Stephen
S
Sinnott
Rachel
R
Susman
Michael F
MF
Buckley
George
G
Elakis
Timothy
T
Cox
Tony
T
Roscioli
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D019943:Amino Acid Substitution / Q000235:genetics*; D004252:DNA Mutational Analysis; D005145:Face / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D012447:Sacrum / Q000002:abnormalities; D013577:Syndrome
D051497:Receptor, Fibroblast Growth Factor, Type 2