Congenital muscular dystrophy with severe retrocollis and mental retardation: a report of two siblings.
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.
Nashef
L
L
Kent and Canterbury Hospital, Department of Neurology, London, UK.
Lake
B D
BD
Schapira
A H
AH
D000328:Adult; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D009136:Muscular Dystrophies / Q000151:congenital*; D009679:Nuclear Family; D014103:Torticollis