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.

Figure 1

Brachydactyly with accessory fingers.

Figure 2

Feet with the accessory 11th toe.

Figure 3

Funduscopic picture of left eye showing bony spicules, arteriolar attenuation and waxy pallor of disc, which are suggestive of retinitis pigmentosa.

Figure 4

Funduscopic picture of right eye showing bony spicules, arteriolar attenuation and waxy pallor of disc, which are suggestive of retinitis pigmentosa.