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“Marden-Walker Syndrome”: Neuropathologic Findings in Two Siblings |
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| Authors: | Jack N. Sees Jr. Javad Towfighi David B. Robins Roger L. Ladda |
| Affiliation: | a Department of Pathology, The Milton S. Hershey Medical Center, The Pennsylvania State University, Hershey, Pennsylvaniab Department of Pediatrics, The Milton S. Hershey Medical Center, The Pennsylvania State University, Hershey, Pennsylvania |
| 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. |
| Keywords: | arthrogryposis malformation Marden-Walker syndrome Pena-Shokeir syndrome spinal cord |
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