title: Congenital myopathy with oculo-facial abnormalities (Marden-Walker syndrome).
abstract: Marden-Walker syndrome present in the neonatal period is characterized by oculo-facial abnormalities, congenital myopathy, and contractures. A newborn infant with a similar pattern of anomalies is reported, and further evidence for autosomal recessive inheritance as well as new neuropathological findings are included.
authors.affiliation: Department of Pediatrics, Hebrew University, Jerusalem, Israel.
authors.forename: N
authors.initials: N
authors.lastname: Linder
authors.forename: I
authors.initials: I
authors.lastname: Mathot
authors.forename: A
authors.initials: A
authors.lastname: Livoff
authors.forename: J
authors.initials: J
authors.lastname: Glass
authors.forename: I
authors.initials: I
authors.lastname: Bornstein
authors.forename: E
authors.initials: E
authors.lastname: Gross
authors.forename: S
authors.initials: S
authors.lastname: Yatsiv
authors.forename: A
authors.initials: A
authors.lastname: Sommer
mesh_terms: D003286:Contracture / Q000151:congenital / Q000235:genetics; D005124:Eye Abnormalities / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D009135:Muscular Diseases / Q000151:congenital / Q000235:genetics*; D013577:Syndrome