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Marden—Walker syndrome versus isolated distal arthrogryposis: Evidence that both conditions may be variable manifestations of the same mutated gene
Author(s) -
Fryns J. P.,
Willekens D.,
Schoubroeck D.,
Moerman Ph.
Publication year - 1998
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1998.tb03701.x
Subject(s) - arthrogryposis , pathological , hypoplasia , medicine , corpus callosum , variable expression , anatomy , pathology , biology , genetics , gene
In this report we present evidence that Marden‐Walker syndrome and isolated distal arthrogryposis may be variable manifestations of the same entity. We describe the clinical and pathological findings in two affected siblings, the first two children of normal, non‐consanguineous parents. The first child, a female, presented a typical Marden–Walker syndrome with Dandy–Walker type CNS malformation, corpus callosum hypoplasia and enlarged ventricles. In the second pregnancy, echographic examination revealed joint contractures of the hands and feet. Feto‐pathological examination revealed a normocephalic male fetus with severe distal arthrogryposis. There was no facial dysmorphism and pathological examination of the brain, the spinal cord and muscle was normal.