title: "Marden-Walker syndrome": neuropathologic findings in two siblings.
abstract: Neuropathologic examination of two siblings with phenotypic features consistent with Marden-Walker syndrome revealed central nervous system abnormalities which include reduction in the number of spinal anterior horn cells. The occurrence of these changes in a sibling pair provides strong evidence for a genetic etiology. The relationship between the neuropathologic changes and other phenotypic manifestations in this syndrome and in the closely related syndrome of Pena-Shokeir are discussed.
authors.affiliation: Department of Pathology, Milton S. Hershey Medical Center, Pennsylvania State University, Hershey 17033.
authors.forename: J N
authors.initials: JN
authors.lastname: Sees
authors.forename: J
authors.initials: J
authors.lastname: Towfighi
authors.forename: D B
authors.initials: DB
authors.lastname: Robins
authors.forename: R L
authors.initials: RL
authors.lastname: Ladda
mesh_terms: D000015:Abnormalities, Multiple / Q000196:embryology / Q000235:genetics / Q000473:pathology*; D002490:Central Nervous System / Q000473:pathology*; D005145:Face / Q000002:abnormalities*; D006801:Humans; D006869:Hydronephrosis / Q000150:complications*; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D017880:Limb Deformities, Congenital; D008297:Male; D008831:Microcephaly / Q000150:complications*; D009132:Muscles / Q000473:pathology; D013577:Syndrome