Article first published online: 24 NOV 2010
Copyright © 2010 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 152A, Issue 12, pages 3095–3100, December 2010
How to Cite
Ali, R., Almureikhi, M., Al-Musaifri, F., Bhat, V., Teebi, A. and Ben-Omran, T. (2010), Further delineation of the Van den Ende–Gupta syndrome. Am. J. Med. Genet., 152A: 3095–3100. doi: 10.1002/ajmg.a.33725
How to Cite this Article: Ali R, Almureikhi M, Al-Musaifri F, Bhat V, Teebi A, Ben-Omran T. 2010. Further delineation of the Van den Ende–Gupta syndrome. Am J Med Genet Part A 152A:3095–3100.
This article is dedicated to the memory of Professor Ahmad Teebi, a great dysmorphologist and excellent geneticist.
- Issue published online: 24 NOV 2010
- Article first published online: 24 NOV 2010
- Manuscript Accepted: 6 SEP 2010
- Manuscript Received: 10 JUN 2010
- van den Ende–Gupta syndrome;
- everted lower lip;
- autosomal recessive;
- malar hypoplasia
Van Den Ende–Gupta syndrome (VDEGS) is an infrequently described disorder characterized by arachnodactyly, camptodactyly, blepharophimosis, malar hypoplasia, narrow nasal bridge, convex nasal ridge, and everted lower lip. Patients show normal growth and cognition. We report on three male and three female cases from four consanguineous families, of which three belong to the same highly inbred tribe from Qatar. The phenotype in the patients is remarkably homogeneous. VDEGS has been suggested both to follow an autosomal recessive and autosomal dominant pattern of inheritance, but our observations suggest an autosomal recessive pattern of inheritance, although genetic heterogeneity cannot be excluded. © 2010 Wiley-Liss, Inc.