Publication
Title
Cerebellar hypoplasia in a patient with velo-cardio-facial syndrome
Author
Abstract
Cerebellar malformations feature a large number of syndromes of unknown etiology. A child with hypoplasia of the vermis and left cerebellar hemisphere, severe mental retardation and facial dysmorphism was initially diagnosed as suffering from 3C (Ritscher-Schinzel) syndrome. A deletion in chromosome 22q11 was subsequently demonstrated, establishing the diagnosis of velo-cardio-facial (Shprintzen) syndrome. This observation confirms the previous finding of cerebellar anomalies in Shprintzen syndrome, and suggests an overlap between the VCFS and 3C syndrome. Other signs of VCFS should be looked for in children with cerebellar malformation.
Language
English
Source (journal)
Developmental medicine and child neurology. - London
Publication
London : 1996
ISSN
0012-1622
Volume/pages
38:10(1996), p. 949-953
ISI
A1996VL97600010
Full text (Publisher's DOI)
UAntwerpen
Faculty/Department
Research group
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 29.02.2012
Last edited 17.11.2017
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