title: New recessive syndrome of microcephaly, cerebellar hypoplasia, and congenital heart conduction defect.
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.
authors: Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt. mszaki60@internetegypt.com
authors: Maha S
authors: MS
authors: Zaki
authors: Ghada M H Abdel
authors: GM
authors: Salam
authors: Sahar N
authors: SN
authors: Saleem
authors: William B
authors: WB
authors: Dobyns
authors: Mahmoud Y
authors: MY
authors: Issa
authors: Shifteh
authors: S
authors: Sattar
authors: Joseph G
authors: JG
authors: Gleeson
mesh_terms: D000293:Adolescent; D001921:Brain / Q000473:pathology; D002531:Cerebellum / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D003922:Diabetes Mellitus, Type 1 / Q000150:complications / Q000235:genetics; D019066:Facies; D005260:Female; D005808:Genes, Recessive; D006330:Heart Defects, Congenital / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome