title: Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype.
abstract: 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 with neutrophilia. Neutrophil motility was markedly decreased but the opsonophagocytic activity was normal. Both patients lack the red blood cell (RBC) H antigen and manifest the Bombay (hh) phenotype. Familial endocardial fibroelastosis and familial tetralogy of Fallot segregated independently in one family. The occurrence of the same syndrome in 2 unrelated families suggests that the various aspects of the disorder are the pleiotropic effects of a single mutation. Homozygosity-by-descent for a deletion involving contiguous genes may explain the findings in this syndrome. Alternatively, a mutation which involves an ubiquitous GDP fucose donor rather than the enzyme (alpha 2-L-fucosyltransferase) or its substrate (glcNAc) may account for the pleiotropic manifestations in this syndrome.
authors: Department of Pediatrics, Hasharon Hospital Petah Tiqwa, Israel.
authors: M
authors: M
authors: Frydman
authors: A
authors: A
authors: Etzioni
authors: T
authors: T
authors: Eidlitz-Markus
authors: I
authors: I
authors: Avidor
authors: I
authors: I
authors: Varsano
authors: Y
authors: Y
authors: Shechter
authors: J B
authors: JB
authors: Orlin
authors: R
authors: R
authors: Gershoni-Baruch
mesh_terms: D000017:ABO Blood-Group System; D002675:Child, Preschool; D003241:Consanguinity; D004392:Dwarfism / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D007958:Leukocyte Count; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D009504:Neutrophils; D010375:Pedigree; D011596:Psychomotor Disorders / Q000235:genetics*; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome
chemical_list: D000017:ABO Blood-Group System