Spinal Muscular Atrophy Variant With Congenital Fractures

Am J Med Genet. 1999 Nov 5;87(1):65-8. doi: 10.1002/(sici)1096-8628(19991105)87:1<65::aid-ajmg13>3.0.co;2-5.

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Cyclic AMP Response Element-Binding Protein
  • DNA Mutational Analysis
  • Fatal Outcome
  • Female
  • Femoral Fractures / congenital
  • Femoral Fractures / genetics
  • Fractures, Bone / congenital*
  • Fractures, Bone / genetics
  • Genetic Variation
  • Humans
  • Humeral Fractures / congenital
  • Humeral Fractures / genetics
  • Infant
  • Infant, Newborn
  • Male
  • Nerve Tissue Proteins / genetics
  • RNA-Binding Proteins
  • SMN Complex Proteins
  • Spinal Muscular Atrophies of Childhood / genetics
  • Spinal Muscular Atrophies of Childhood / pathology*

Substances

  • Cyclic AMP Response Element-Binding Protein
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • SMN Complex Proteins