title: Bardet-Biedl syndrome: multiple fingers with multiple defects!
abstract: Bardet-Biedl syndrome (BBS) is a rare congenital ciliopathy characterised by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism and renal dysfunction. A 45-year-old Indian man presented with New York Heart Association class 2 dyspnoea of 3 months duration. He was blind since childhood. He was obese, cyanosed, and had clubbing and polydactyly. Systemic examination revealed presence of wide and fixed split second heart sound with systolic murmur in the left parasternal area. Work up unmasked the presence of secondary polycythaemia, atypical retinitis pigmentosa and partial atrioventricular defect. He was diagnosed to have BBS based on clinical and radiological features. This case is interesting for its rarity and also for the peculiarity of its cardiovascular association. Polydactyly with a suspicious clinical background is the clue and by itself warrants the clinician to search for occult anomalies. Clinicians must be aware of this syndrome, for which an early diagnosis and a multidisciplinary approach will significantly improve mortality and morbidity in patients.
authors.affiliation: Department of Internal Medicine, Kasturba Medical College, Manipal, Manipal, Karnataka, India.
authors.forename: Jagadesh
authors.initials: J
authors.lastname: Madireddi
authors.affiliation: Department of Internal Medicine, Kasturba Medical College, Manipal, Manipal, Karnataka, India.
authors.forename: Vasuveda
authors.initials: V
authors.lastname: Acharya
authors.affiliation: Department of Internal Medicine, Kasturba Medical College, Manipal, Manipal, Karnataka, India.
authors.forename: Jandhyala
authors.initials: J
authors.lastname: Suryanarayana
authors.affiliation: Department of Internal Medicine, Kasturba Medical College, Manipal, Manipal, Karnataka, India.
authors.forename: Handattu Manjunath
authors.initials: HM
authors.lastname: Hande
authors.affiliation: Department of Internal Medicine, Kasturba Medical College, Manipal, Manipal, Karnataka, India.
authors.forename: Ranjan
authors.initials: R
authors.lastname: Shetty
mesh_terms: D020788:Bardet-Biedl Syndrome / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D003937:Diagnosis, Differential; D004417:Dyspnea / Q000209:etiology; D004487:Edema / Q000209:etiology; D006344:Heart Septal Defects, Atrial / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D008297:Male; D008875:Middle Aged