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Neuropediatrics 1988; 19(4): 179-182
DOI: 10.1055/s-2008-1052441
Original articles

© Georg Thieme Verlag KG Stuttgart · New York

Marshall-Smith Syndrome: New Aspects

A. M. Roodhooft1 , K. J. Van Acker1 , M. N. Van Thienen2 , J. J. Martin3 , C.  Ceuterick3
  • 1Department of Pediatrics, University Hospital, University of Antwerp, Belgium
  • 2Department of Human Genetics, University Hospital, University of Antwerp, Belgium
  • 3Laboratory of Neuropathology, Born-Bunge Foundation and University of Antwerp, Belgium
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Publikationsdatum:
19. Mai 2008 (online)

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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.

Key words

Marshall-Smith syndrome - Myopathy with selective type II fiber hypoplasia