Marshall-Smith Syndrome: New Aspects
- 1 November 1988
- journal article
- research article
- Published by Georg Thieme Verlag KG in Neuropediatrics
- Vol. 19 (04) , 179-182
- https://doi.org/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 lIb 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.Keywords
This publication has 1 reference indexed in Scilit:
- Congenital myopathy with type II muscle fiber hypoplasiaNeurology, 1987