How to cite this article: Van de Laar I, Dooijes D, Hoefsloot L, Simon M, Hoogeboom J, Devriendt K. 2007. Limb anomalies in patients with CHARGE syndrome: An expansion of the phenotype. Am J Med Genet Part A 143A:2712–2715.
Limb anomalies in patients with CHARGE syndrome: An expansion of the phenotype†
Article first published online: 15 OCT 2007
Copyright © 2007 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 143A, Issue 22, pages 2712–2715, 15 November 2007
How to Cite
Van de Laar, I., Dooijes, D., Hoefsloot, L., Simon, M., Hoogeboom, J. and Devriendt, K. (2007), Limb anomalies in patients with CHARGE syndrome: An expansion of the phenotype. Am. J. Med. Genet., 143A: 2712–2715. doi: 10.1002/ajmg.a.32008
- Issue published online: 25 OCT 2007
- Article first published online: 15 OCT 2007
- Manuscript Accepted: 24 JUN 2007
- Manuscript Received: 2 FEB 2007
- CHARGE syndrome;
- congenital upper limb deformities;
- congenital lower limb deformities
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. © 2007 Wiley-Liss, Inc.