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Titolo:
NEUROPATHOLOGIC FINDINGS IN A CASE OF OFDS-TYPE-VI (VARADI-SYNDROME)
Autore:
DOSS BJ; JOLLY S; QURESHI F; JACQUES SM; EVANS MI; JOHNSON MP; LAMPINEN J; KUPSKY WJ;
Indirizzi:
HUTZEL HOSP,DEPT PATHOL,4707 ST ANTOINE BLVD DETROIT MI 48201 MED CTR,DEPT PATHOL DETROIT MI 00000 WAYNE STATE UNIV,SCH MED DETROIT MI 00000 MED CTR,DEPT OBSTET & GYNECOL DETROIT MI 00000 MED CTR,DEPT MOL MED & GENET DETROIT MI 00000
Titolo Testata:
American journal of medical genetics
fascicolo: 1, volume: 77, anno: 1998,
pagine: 38 - 42
SICI:
0148-7299(1998)77:1<38:NFIACO>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
FACIAL-DIGITAL SYNDROME; MUTANT MOUSE; 2 COUSINS; WEAVER; CEREBELLUM; REELER; CELLS; SECONDARY; MIGRATION; FETUS;
Keywords:
CEREBELLAR VERMIS HYPOPLASIA; NEUROPATHOLOGY; ORAL-FACIAL-DIGITAL SYNDROME TYPE VI; VARADI SYNDROME;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
25
Recensione:
Indirizzi per estratti:
Citazione:
B.J. Doss et al., "NEUROPATHOLOGIC FINDINGS IN A CASE OF OFDS-TYPE-VI (VARADI-SYNDROME)", American journal of medical genetics, 77(1), 1998, pp. 38-42

Abstract

Oral-facial-digital syndrome type VI (OFDS VI) or Varadi 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 ofOFDS 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 subpialgranular cell layer and disruption of 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 far the cerebellar-abnormalities in this form of oral-facial-digital syndrome. (C) 1998 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 26/10/20 alle ore 10:18:34