Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype.

摘要: We describe 2 Arab patients, both offspring of unrelated consanguineous matings, with unusual facial appearance, severe mental retardation, microcephaly, cortical atrophy, seizures, hypotonia, dwarfism, and recurrent infections neutrophilia. Neutrophil motility was markedly decreased but the opsonophagocytic activity normal. Both patients lack red blood cell (RBC) H antigen manifest Bombay (hh) phenotype. Familial endocardial fibroelastosis familial tetralogy Fallot segregated independently in one family. The occurrence same syndrome families suggests that various aspects disorder are pleiotropic effects a single mutation. Homozygosity-by-descent for deletion involving contiguous genes may explain findings this syndrome. Alternatively, mutation which involves an ubiquitous GDP fucose donor rather than enzyme (alpha 2-L-fucosyltransferase) or its substrate (glcNAc) account manifestations