title: Atypical facio-scapulo-humeral muscular dystrophy--a counselling dilemma.
abstract: In an isolated male patient, differentiation between Facio-Scapulo-Humeral Muscular Dystrophy (FSH) and Becker Muscular Dystrophy (BMD) may be difficult. To emphasise this point, we report a patient, whose features are atypical of FSH. Details of his daughter who now manifests similar presenting features, are provided. The pitfalls posed for the genetic counsellor by FSH presenting in an atypical manner which clinically overlaps with genetically distinct conditions are discussed in the light of this pedigree.
authors.affiliation: Mothercare Department of Paediatric Genetics, Institute of Child Health, London, UK.
authors.forename: W
authors.initials: W
authors.lastname: Reardon
authors.forename: I K
authors.initials: IK
authors.lastname: Temple
authors.forename: G
authors.initials: G
authors.lastname: Harwood
authors.forename: M
authors.initials: M
authors.lastname: Baraitser
mesh_terms: D000328:Adult; D002648:Child; D016208:Databases, Factual / Q000706:statistics & numerical data; D005260:Female; D005817:Genetic Counseling / Q000379:methods*; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D009136:Muscular Dystrophies / Q000145:classification / Q000235:genetics* / Q000473:pathology; D010375:Pedigree