title: Spinal muscular atrophy variant with congenital fractures.
abstract: A single report of brothers born to first-cousin parents with a form of acute spinal muscular atrophy (SMA) and congenital fractures suggested that this combination represented a distinct form of autosomal recessive SMA. We describe a boy with hypotonia and congenital fractures whose sural nerve and muscle biopsies were consistent with a form of spinal muscular atrophy. Molecular studies identified no abnormality of the SMN(T) gene on chromosome 5. This case serves to validate the suggestion of a distinct and rare form of spinal muscular atrophy while not excluding possible X-linked inheritance.
authors.affiliation: University of Virginia School of Medicine, Charlottesville, Virginia 22908, USA. TEK8S@Virginia,edu
authors.forename: T E
authors.initials: TE
authors.lastname: Kelly
authors.forename: K
authors.initials: K
authors.lastname: Amoroso
authors.forename: M
authors.initials: M
authors.lastname: Ferre
authors.forename: J
authors.initials: J
authors.lastname: Blanco
authors.forename: P
authors.initials: P
authors.lastname: Allinson
authors.forename: T W
authors.initials: TW
authors.lastname: Prior
mesh_terms: D000293:Adolescent; D017362:Cyclic AMP Response Element-Binding Protein; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D005260:Female; D005264:Femoral Fractures / Q000151:congenital / Q000235:genetics; D050723:Fractures, Bone / Q000151:congenital* / Q000235:genetics; D014644:Genetic Variation; D006801:Humans; D006810:Humeral Fractures / Q000151:congenital / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; D014897:Spinal Muscular Atrophies of Childhood / Q000235:genetics / Q000473:pathology*
chemical_list: D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins