title: Lethal congenital muscular dystrophy with cataracts and a minor brain anomaly: new entity or variant of Walker-Warburg syndrome?
abstract: A term newborn male with severe hypotonia and contractures was found to have dense bilateral cataracts. He died at age 3 days of respiratory failure. Amino acidopathies and disorders of peroxisome function were excluded, and results of serologic studies and placental histopathology, specifically seeking evidence of intrauterine infection, were normal. Autopsy showed changes in the skeletal muscles consistent with congenital muscular dystrophy and a small focal anomaly of the cerebral cortex. These findings either represent a new syndrome or raise further questions about broadening the spectrum of known congenital muscular dystrophy syndromes with associated eye and brain anomalies.
authors.affiliation: Department of Medical Genetics, University of British Columbia, Vancouver.
authors.forename: D S
authors.initials: DS
authors.lastname: Wargowski
authors.forename: D
authors.initials: D
authors.lastname: Chitayat
authors.forename: R W
authors.initials: RW
authors.lastname: Tyson
authors.forename: M G
authors.initials: MG
authors.lastname: Norman
authors.forename: J M
authors.initials: JM
authors.lastname: Friedman
mesh_terms: D001921:Brain / Q000002:abnormalities*; D002386:Cataract / Q000150:complications / Q000151:congenital* / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications / Q000151:congenital* / Q000473:pathology; D013577:Syndrome