title: Clinical features of Bardet-Biedl syndrome.
abstract: Six patients with Bardet-Biedl syndrome who have been followed in our clinics for the last 5 years are reported in this study. Of the five classic features of this syndrome; obesity and mental retardation were present in all cases, retinal disturbances were present in five, polydactyly in three and hypogenitalism was observed in all four male patients. Renal involvement, often suggested as a cardinal feature of this syndrome, was described in two patients. Iron deficiency anemia occurred in three patients, two patients were of short stature, one patient presented with an empty sella, and in two patients clinodactyly was detected. The results are compared to previously published literature and discussed.
authors.affiliation: Department of Pediatrics, Metabolism and Endocrinology, Medical Faculty of Cukurova University, Adana, Turkey.
authors.forename: G
authors.initials: G
authors.lastname: Ozer
authors.forename: B
authors.initials: B
authors.lastname: Yüksel
authors.forename: D
authors.initials: D
authors.lastname: Süleymanova
authors.forename: E
authors.initials: E
authors.lastname: Alhan
authors.forename: N
authors.initials: N
authors.lastname: Demircan
authors.forename: N
authors.initials: N
authors.lastname: Onenli
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007849:Laurence-Moon Syndrome / Q000378:metabolism / Q000473:pathology; D008297:Male