title: Congenital muscular dystrophy, brain malformation and ocular problems (muscle, eye and brain disease) in two German families.
abstract: We report on two brothers and an unrelated girl with congenital muscular dystrophy (CMD), brain malformation and ocular changes (strabismus, myopia, glaucoma, cataracts, retinal dystrophy). Correlations with the inherited autosomal recessive syndromes of CMD, including the Fukuyama-type CMD with CNS malformation, and the Muscle, Eye and Brain Disease published by Santavuori are discussed.
mesh_terms: D001927:Brain Diseases / Q000151:congenital* / Q000453:epidemiology / Q000235:genetics; D002648:Child; D002657:Child Development; D005128:Eye Diseases / Q000151:congenital* / Q000453:epidemiology / Q000235:genetics; D005260:Female; D005860:Germany, West; D006801:Humans; D007223:Infant; D008297:Male; D009048:Motor Skills; D009136:Muscular Dystrophies / Q000151:congenital* / Q000453:epidemiology / Q000235:genetics