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"Marden-Walker syndrome": neuropathologic findings in two siblings
J N Sees1, J Towfighi, D B Robins
1Department of Pathology, Milton S. Hershey Medical Center, Pennsylvania State University, Hershey 17033.
Pediatric Pathology
|January 1, 1990
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.