"Marden-Walker syndrome": neuropathologic findings in two siblings.
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.
Sees
J N
JN
Department of Pathology, Milton S. Hershey Medical Center, Pennsylvania State University, Hershey 17033.
Towfighi
J
J
Robins
D B
DB
Ladda
R L
RL
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