title: Fukuyama congenital muscular dystrophy in two Australian female siblings.
abstract: The clinical course of two female siblings with congenital muscular dystrophy is briefly described, and includes congenital cerebral malformations consisting of pachygyria, polymicrogyria and white matter abnormalities. The first sibling died in infancy; the second is now 18 years of age. The changes found at autopsy in the first sibling are identical to MRI changes in the surviving sibling.
authors.affiliation: Regency Park Centre for Young Disabled, Kilkenny, South Australia.
authors.forename: L M
authors.initials: LM
authors.lastname: Stern
authors.forename: L
authors.initials: L
authors.lastname: Albertyn
authors.forename: J I
authors.initials: JI
authors.lastname: Manson
mesh_terms: D000293:Adolescent; D001315:Australia; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination