Title: Cerebellar hypoplasia in a patient with velo-cardio-facial syndrome
Authors: Devriendt, Koenraad ×
Thienen, M N
Swillen, Ann
Fryns, Jean-Pierre #
Issue Date: Nov-1996
Series Title: Developmental Medicine and Child Neurology vol:38 issue:10 pages:949-53
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.
ISSN: 0012-1622
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Research Group for Adapted Physical Activity and Psychomotor Rehabilitation
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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