Marshall-Smith syndrome: new aspects

Neuropediatrics. 1988 Nov;19(4):179-82. doi: 10.1055/s-2008-1052441.

Abstract

A 4-year-old girl with the Marshall-Smith syndrome (MSS) is described. A muscle biopsy was performed because of hypotonia and muscular weakness. Selective hypoplasia of type IIa and IIb fibers was found. Additional not previously reported findings in this girl were a partial growth hormone deficiency, a partial villous atrophy of the small bowel and a pronounced dicarboxylic aciduria. The significance of these findings in MSS is not clear and the results of similar investigations in other MSS patients have to be awaited.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biopsy
  • Body Height
  • Child, Preschool
  • Facial Bones / abnormalities*
  • Failure to Thrive / etiology
  • Female
  • Gait
  • Growth Disorders / pathology*
  • Humans
  • Intellectual Disability / pathology*
  • Muscle Hypotonia / pathology*
  • Muscles / pathology*
  • Syndrome