1. 'Marden-Walker Syndrome': Neuropathologic Findings in Two Siblings
- Author
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Jack N Sees, David B. Robins, Javad Towfighi, and Roger L. Ladda
- Subjects
Central Nervous System ,Male ,Pathology ,medicine.medical_specialty ,Central nervous system ,Limb Deformities, Congenital ,Hydronephrosis ,Kidney ,Pathology and Forensic Medicine ,Anterior Horn Cell ,Marden–Walker syndrome ,Genetic etiology ,Humans ,Medicine ,Abnormalities, Multiple ,Sibling ,Arthrogryposis ,Pena-Shokeir Syndrome ,business.industry ,Muscles ,Infant, Newborn ,Syndrome ,Spinal cord ,medicine.disease ,medicine.anatomical_structure ,Face ,Pediatrics, Perinatology and Child Health ,Microcephaly ,sense organs ,medicine.symptom ,business - 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.
- Published
- 1990
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