"Marden-Walker syndrome": neuropathologic findings in two siblings
- PMID: 2235765
- DOI: 10.3109/15513819009064714
"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.