title: A family with the Bardet-Biedl syndrome and diabetes mellitus.
abstract: We studied a family with the Bardet-Biedl syndrome and diabetes mellitus. Two affected brothers and one affected sister were examined. Two older sisters with stigmata of the syndrome had died of unclear causes. The 18-year-old brother was obese, was mentally retarded, and had pigmentary retinopathy and insulin-dependent diabetes mellitus. The 16-year-old sister, who died in a diabetic coma during the course of the investigation, had polydactyly, hypogenitalism, obesity, mental retardation, and pigmentary retinopathy. The 8-year-old brother had all the features of the syndrome, but no overt diabetes mellitus. Electroretinography showed severe cone and rod dysfunction. Patients with the Bardet-Biedl syndrome should be screened for the presence of abnormalities in glucose metabolism.
authors.affiliation: Department of Ophthalmology, Children's Hospital National Medical Center, Washington, DC.
authors.forename: F
authors.initials: F
authors.lastname: Escallon
authors.forename: E I
authors.initials: EI
authors.lastname: Traboulsi
authors.forename: R
authors.initials: R
authors.lastname: Infante
mesh_terms: D000293:Adolescent; D002648:Child; D003922:Diabetes Mellitus, Type 1 / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D004596:Electroretinography; D005190:Family; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D007849:Laurence-Moon Syndrome / Q000175:diagnosis; D008297:Male; D009765:Obesity / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010786:Photoreceptor Cells / Q000503:physiopathology; D011218:Prader-Willi Syndrome / Q000175:diagnosis; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome