How to Cite this Article: Zaki MS, Abdel Salam GMH, Saleem SN, Dobyns WB, Issa MY, Sattar S, Gleeson JG. 2011. New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect. Am J Med Genet Part A 155: 3035–3041.
New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect†
Version of Record online: 14 OCT 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 12, pages 3035–3041, December 2011
How to Cite
Zaki, M. S., Salam, G. M. H. A., Saleem, S. N., Dobyns, W. B., Issa, M. Y., Sattar, S. and Gleeson, J. G. (2011), New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect. Am. J. Med. Genet., 155: 3035–3041. doi: 10.1002/ajmg.a.34078
- Issue online: 21 NOV 2011
- Version of Record online: 14 OCT 2011
- Manuscript Accepted: 6 APR 2011
- Manuscript Received: 6 DEC 2010
- insulin-dependent diabetes;
- cerebellar hypoplasia;
- mental retardation;
- heart block
We identified a two-branch consanguineous family in which four affected members (three females and one male) presented with constitutive growth delay, severe psychomotor retardation, microcephaly, cerebellar hypoplasia, and second-degree heart block. They also shared distinct facial features and similar appearance of their hands and feet. Childhood-onset insulin-dependent diabetes mellitus developed in one affected child around the age of 9 years. Molecular analysis excluded mutations in potentially related genes such as PTF1A, EIF2AK3, EOMES, and WDR62. This condition appears to be unique of other known conditions, suggesting a unique clinical entity of autosomal recessive mode of inheritance. © 2011 Wiley Periodicals, Inc.