Marshall-Smith syndrome: new aspects.
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.
Roodhooft
A M
AM
Department of Pediatrics, University Hospital, University of Antwerp, Belgium.
Van Acker
K J
KJ
Van Thienen
M N
MN
Martin
J J
JJ
Ceuterick
C
C
D001706:Biopsy; D001827:Body Height; D002675:Child, Preschool; D005147:Facial Bones / Q000002:abnormalities*; D005183:Failure to Thrive / Q000209:etiology; D005260:Female; D005684:Gait; D006130:Growth Disorders / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D009123:Muscle Hypotonia / Q000473:pathology*; D009132:Muscles / Q000473:pathology*; D013577:Syndrome