PMID: 9557892Apr 29, 1998Paper

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

American Journal of Medical Genetics
B J DossW J Kupsky

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.

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Citations

Jul 24, 2008·Journal of Neuropathology and Experimental Neurology·Anders PaetauRiitta Herva
Oct 30, 2007·American Journal of Medical Genetics. Part a·Fiorella GurrieriGiovanni Neri
Jun 15, 2010·Birth Defects Research. Part A, Clinical and Molecular Teratology·Jennifer N Murdoch, Andrew J Copp
Feb 28, 2006·American Journal of Medical Genetics. Part a·Gaetan LescaJocelyne Attia-Sobol
Apr 6, 2007·Journal of Clinical Ultrasound : JCU·Mandakini PradhanHariharan Sankar
Nov 2, 2013·Human Genetics·Estelle LopezTania Attié-Bitach
Jan 29, 2011·American Journal of Medical Genetics. Part a·Christel Thauvin-RobinetLaurence Faivre
Dec 23, 2004·Prenatal Diagnosis·Melih Atahan GuvenMurat Uzel
Apr 8, 2015·American Journal of Medical Genetics. Part a·Yavuz BayramJames R Lupski

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