Neuropathologic findings in a case of OFDS type VI (Váradi syndrome)

Am J Med Genet. 1998 Apr 28;77(1):38-42. doi: 10.1002/(sici)1096-8628(19980428)77:1<38::aid-ajmg9>3.0.co;2-h.

Abstract

Oral-facial-digital syndrome type VI (OFDS VI) or Váradi syndrome is a rare autosomal-recessive 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.

Publication types

  • Case Reports

MeSH terms

  • Cerebellar Diseases / genetics
  • Cerebellar Diseases / pathology
  • Fetal Diseases / diagnosis
  • Fetal Diseases / genetics
  • Fetal Diseases / pathology*
  • Genes, Recessive
  • Humans
  • Male
  • Metacarpus / abnormalities
  • Neuroglia / pathology
  • Orofaciodigital Syndromes / diagnosis
  • Orofaciodigital Syndromes / genetics
  • Orofaciodigital Syndromes / pathology*
  • Polydactyly / genetics
  • Polydactyly / pathology
  • Prenatal Diagnosis