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Neuropathologic findings in a case of OFDS type VI (Vradi syndrome) by Doss, Barbara J.; Jolly, Shruti; Qureshi, Faisal; Jacques, Suzanne M.; Evans, Mark I.; Johnson, Mark P.; Lampinen, Jennifer; Kupsky, William J. is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Neuropathologic findings in a case of OFDS type VI (Vradi syndrome) about?

Oral-facial-digital syndrome type VI (OFDS VI) or Va ́radi syndrome is a rare autosomalrecessive disorder distinguished from other oral-facial-digital syndromes by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities. Histopathologic characterization of the cerebellar abnormalities has not been described previously. We describe the neuropathologic findings in a stillborn, 21-week estimated gestational age (EGA) male fetus diagnosed antenatally with signs of OFDS VI. Autopsy findings included: facial abnormalities, postaxial central polydactyly of the right hand, bilateral bifid toes, and absence of cerebellar vermis with hypoplasia of the hemispheric cortex. Microscopic analysis of the cerebellum demonstrated absence of the subpial granular cell layer and disruption or dysgenesis of the glial architecture. These histopathologic findings suggest that a primary neuronal or glial cell defect, rather than an associated Dandy-Walker malformation, may account for the cerebellar abnormalities in this form of oral-facial-digital syndrome.

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Author

Doss, Barbara J.; Jolly, Shruti; Qureshi, Faisal; Jacques, Suzanne M.; Evans, Mark I.; Johnson, Mark P.; Lampinen, Jennifer; Kupsky, William J.

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)

Published

1998

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)