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New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect
Author(s) -
Zaki Maha S.,
Salam Ghada M. H. Abdel,
Saleem Sahar N.,
Dobyns William B.,
Issa Mahmoud Y.,
Sattar Shifteh,
Gleeson Joseph G.
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34078
Subject(s) - microcephaly , cerebellar hypoplasia (non human) , hypoplasia , medicine , heart defect , cardiology , anatomy , pediatrics , cerebellum , heart disease
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.