BARDET–BEIDL SYNDROME WITH RICKETS
Journal Title: Stanley Medical Journal - Year 2016, Vol 3, Issue 2
Abstract
Bardet-Biedl syndrome (BBS) is a rare ciliopathic genetically heterogenous disorder with wide spectrum of clinical features. They present with varied signs and symptoms among affected individuals, even among members of the same family. The pattern of inheritance is autosomal recessive. They affect male and females equally. Here we report a case of 7 year old boy who presented with rod-cone dystrophy, polydactyly, obesity, learning disabilities, hypogonadism, renal damage, speech disorder and developmental delay. He had chronic kidney disease with secondary hyperparathyroidism and renal rickets. Only less than 20 cases of BBS have been reported in India so far.
Authors and Affiliations
Ravichandran T, Stalin S, Prabu V, Kavitha D, Kavya P
Keywords
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