1. A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype
- Author
-
Michael F. Buckley, Julie McGaughran, Timothy C. Cox, George Elakis, Stephen Sinnott, Tony Roscioli, and Rachel Susman
- Subjects
Adult ,Male ,medicine.medical_specialty ,Sacrum ,medicine.risk_factor ,DNA Mutational Analysis ,Perineal hypospadias ,Pathology and Forensic Medicine ,Craniosynostosis ,medicine ,Tail ,Humans ,Abnormalities, Multiple ,Paternal age effect ,Receptor, Fibroblast Growth Factor, Type 2 ,Genetics (clinical) ,business.industry ,Infant, Newborn ,Infant ,General Medicine ,Syndrome ,Choanal stenosis ,Middle Aged ,medicine.disease ,Dermatology ,Phenotype ,Amino Acid Substitution ,Face ,Pediatrics, Perinatology and Child Health ,Mutation (genetic algorithm) ,Mutation ,Mutation testing ,Anatomy ,business - Abstract
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.
- Published
- 2006