NEUROPATHOLOGIC FINDINGS IN A CASE OF OFDS-TYPE-VI (VARADI-SYNDROME)

Oral-facial-digital syndrome type VI (OFDS VI) or Varadi syndrome is a rare autosomal-recessive disorder distinguished from other oral-facia l-digital syndromes by metacarpal abnormalities with central polydacty ly and by cerebellar abnormalities, Histopathologic characterization o f the cerebellar abnormalities has not been described previously, We d escribe 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 ce ntral polydactyly of the right hand, bilateral bifid toes, and absence of cerebellar vermis with hypoplasia of the hemispheric cortex. Micro scopic analysis of the cerebellum demonstrated absence of the subpial granular cell layer and disruption of dysgenesis of the glial architec ture, These histopathologic findings suggest that a primary neuronal o r glial cell defect, rather than an associated Dandy-Walker malformati on, may account far the cerebellar-abnormalities in this form of oral- facial-digital syndrome. (C) 1998 Wiley-Liss, Inc.