title: Walker-Warburg syndrome in a Japanese patient.
abstract: We report the first Japanese female patient with Walker-Warburg syndrome. She had generalized muscle hypotonia with hydrocephalus due to Dandy-Walker malformation and bilateral microphthalmia with opaque corneas. She had severe motor and mental retardation. Muscle histology reflected advanced changes of muscular dystrophy. We discuss the relationship between Fukuyama congenital muscular dystrophy and Walker-Warburg syndrome, both of which fall within a spectrum of developmental abnormalities with a common cause. In Fukuyama congenital muscular dystrophy, ocular abnormalities are less severe.
authors.affiliation: Department of Pediatrics; Sapporo Medical College, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Tachi
authors.forename: M
authors.initials: M
authors.lastname: Tachi
authors.forename: K
authors.initials: K
authors.lastname: Sasaki
authors.forename: C
authors.initials: C
authors.lastname: Tanabe
authors.forename: K
authors.initials: K
authors.lastname: Minagawa
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology / Q000503:physiopathology*; D001921:Brain / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000473:pathology / Q000503:physiopathology; D013577:Syndrome