Congenital muscular dystrophy with severe retrocollis and mental retardation: a report of two siblings.
case_report · Level V
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- Record sourced from PubMed, PMID 9069486.
- Also identified by PMC identifier 1064160.
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Abstract
Two siblings with a congenital muscular dystrophy and severe mental retardation which was not due to dystrophin, merosin, or adhalin deficiency are described. These cases overlap with congenital muscular dystrophy of the Fukuyama-type but are less severe. Atypical features include limited facial involvement, retained ambulation, and severe retrocollis.
Medical subject headings
- Intellectual Disability
- Muscular Dystrophies
- Torticollis