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Bardet Biedl Syndrome - A Report of Two Cases with Otolaryngologic Symptoms.

Research paper by Mahendra K MK Singh, Shrinkhal, Sidharth S Pradhan, Priyanko P Chakraborty

Indexed on: 18 May '17Published on: 18 May '17Published in: Journal of clinical and diagnostic research : JCDR



Abstract

Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive disorder characterized primarily by rod-cone dystrophy, postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. We present two cases of this syndrome, both female, who presented with complaints of nyctalopia and mental retardation, and additionally one of them had sensorineural hearing loss while the other had serous otitis media. Hearing loss being a rare presentation is worth reporting. Both the patients were given a course of vitamin A and the parents were counseled regarding the prognosis and additional complications associated with the syndrome.