title: Spectrum of Di George syndrome in patients with truncus arteriosus: expanded Di George syndrome.
abstract: A study of 26 patients with truncus arteriosus showed a high prevalence of facial dysmorphism, aortic arch abnormalities, extracardiac malformations, and significant prenatal risk factors. There was little evidence of parathyroid or thymic abnormalities. However, there was laboratory evidence of immune deficiency, especially T-helper lymphocytes, and clinical evidence of predilection to infection. These findings suggest that patients with truncus arteriosus belong to the spectrum of the Di George syndrome.
authors.affiliation: Department of Cardiology, Prince Charles Hospital, Brisbane, Australia.
authors.forename: D J
authors.initials: DJ
authors.lastname: Radford
authors.forename: L
authors.initials: L
authors.lastname: Perkins
authors.forename: R
authors.initials: R
authors.lastname: Lachman
authors.forename: Y H
authors.initials: YH
authors.lastname: Thong
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology; D000293:Adolescent; D001013:Aorta, Thoracic / Q000002:abnormalities; D001284:Atrophy; D002118:Calcium / Q000097:blood; D002648:Child; D002675:Child, Preschool; D004062:DiGeorge Syndrome / Q000473:pathology*; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000473:pathology*; D007223:Infant; D008297:Male; D010280:Parathyroid Glands / Q000002:abnormalities; D012307:Risk Factors; D013950:Thymus Gland / Q000473:pathology; D014338:Truncus Arteriosus / Q000473:pathology; D014339:Truncus Arteriosus, Persistent / Q000473:pathology*
chemical_list: D002118:Calcium