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Title: Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype
Authors: Van de Laar, Ingrid ×
Dooijes, Dennis
Hoefsloot, Lies
Simon, Marleen
Hoogeboom, Jeanette
Devriendt, Koenraad #
Issue Date: Nov-2007
Series Title: American Journal of Medical Genetics A vol:143A issue:22 pages:2712-2715
Abstract: CHARGE syndrome is characterized by a wide clinical variability. During the past years the phenotypic spectrum was markedly expanded. Limb anomalies were initially not recognized as part of the phenotype but more recently mild limb anomalies were described in approximately 30% of the patients. We report on three patients with several major features of CHARGE syndrome who, in addition, presented severe limb anomalies including monodactyly, tibia aplasia, and bifid femora. Three different heterozygous truncating mutations in the CHD7 gene were detected. It has been hypothesized before that the CHARGE syndrome is caused by a disruption of mesenchymal-epithelial interaction. Given the expression of the CHD7 gene in the developing limb bud, it was anticipated that limb defects would belong to the spectrum of manifestations of CHARGE syndrome. The present observations provide further support to this hypothesis.
URI: 
ISSN: 1552-4825
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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