DR. UJJWALA PANDEY

DR.(MRS.) BHARATI GOGOI, DR.GITIKASH PURKAYASTHA

Abstract

Laurence-Moon-Bardet-Biedl syndrome (LMBBS), a rare autosomal recessive genetic disorder, results from consanguineous marriage. It is a congenital ciliopathy manifesting with primary and secondary characteristics. Primary clinical features include rod and cone dystrophy, polydactyly, central obesity, genital abnormalities, and mental retardation, often presenting as poor schooling skills. Secondary clinical features include developmental delay, speech deficit, brachydactyly/syndactyly, dental defects, ataxia, olfactory deficit, diabetes mellitus (DM), and congenital heart disease. Herein, reporting you a case of a 16 year old male with clinical manifestations of LMBBS, namely learning disabilities, night blindness, hypogonadism, polydactyly , obesity and diabetes mellitus. A multidisciplinary approach for quality management and regular follow-ups can profoundly diminish morbidity and mortality in LMBBS patients.