title: Marshall-Smith syndrome: new aspects.
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.
authors.affiliation: Department of Pediatrics, University Hospital, University of Antwerp, Belgium.
authors.forename: A M
authors.initials: AM
authors.lastname: Roodhooft
authors.forename: K J
authors.initials: KJ
authors.lastname: Van Acker
authors.forename: M N
authors.initials: MN
authors.lastname: Van Thienen
authors.forename: J J
authors.initials: JJ
authors.lastname: Martin
authors.forename: C
authors.initials: C
authors.lastname: Ceuterick
mesh_terms: 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