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.
McGaughran
Julie
J
Queensland Clinical Genetics Service, Royal Children's Hospital, Herston, Brisbane 4029, Queensland, Australia. Julie_McGaughran@health.qld.gov.au
Sinnott
Stephen
S
Susman
Rachel
R
Buckley
Michael F
MF
Elakis
George
G
Cox
Timothy
T
Roscioli
Tony
T
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