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Am J Med Genet A. 2011 Dec;155A(12):3035-41. doi: 10.1002/ajmg.a.34078. Epub 2011 Oct 14.

New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.

Author information

  • 1Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt. mszaki60@internetegypt.com

Abstract

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.

Copyright © 2011 Wiley Periodicals, Inc.

PMID:
22002884
[PubMed - indexed for MEDLINE]
PMCID:
PMC3415795
Free PMC Article
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