title: Antibody deficiency, growth retardation, spondyloepiphyseal dysplasia and retinal dystrophy: a novel syndrome.
abstract: The clinical and laboratory combination of recurrent infections due to antibody deficiency, spondyloepiphyseal dysplasia, growth retardation and retinal dystrophy is novel. Four patients with strikingly similar phenotypes from three different families of diverse genetic backgrounds are described, suggesting a similar underlying genotype. Increased awareness of this syndrome will hopefully lead to the description of a larger number of affected individuals, which ultimately might be critical for its genetic characterization.
authors: Department of Pediatrics, The Research Institute, The Hospital for Sick Children and the University of Toronto, ON, Canada. croifman@sickkids.on.ca
authors: C M
authors: CM
authors: Roifman
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005317:Fetal Growth Retardation; D006801:Humans; D007153:Immunologic Deficiency Syndromes; D008297:Male; D009139:Musculoskeletal Abnormalities; D010766:Phosphorylation; D011947:Receptors, Antigen, B-Cell; D012160:Retina / Q000002:abnormalities; D013577:Syndrome; D014443:Tyrosine / Q000378:metabolism
chemical_list: D011947:Receptors, Antigen, B-Cell; D014443:Tyrosine