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Article

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

American journal of medical genetics. Part A - 1 Dec 2011

Zaki Maha S, Salam Ghada M H Abdel, Saleem Sahar N, Dobyns William B, Issa Mahmoud Y, Sattar Shifteh, Gleeson Joseph G

Abstract excerpt

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...

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PMID: 22002884
DOI: 10.1002/ajmg.a.34078
PMCID: PMC3415795

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