Spinal muscular atrophy variant with congenital fractures

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 SMNT 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, Am. J. Med. Genet. 87:65-68, 1999, (C) 1999 Wiley-Liss, Inc.