Title
Cerebellar hypoplasia in a patient with velo-cardio-facial syndrome Cerebellar hypoplasia in a patient with velo-cardio-facial syndrome
Author
Faculty/Department
Faculty of Medicine and Health Sciences
Publication type
article
Publication
London ,
Subject
Human medicine
Source (journal)
Developmental medicine and child neurology. - London
Volume/pages
38(1996) :10 , p. 949-953
ISSN
0012-1622
ISI
A1996VL97600010
Carrier
E
Target language
English (eng)
Full text (Publishers DOI)
Affiliation
University of Antwerp
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.
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