Rare case report of Laurence-Moon-Bardet-Biedel syndrome
Journal Title: Medpulse International Journal of Pediatrics - Year 2019, Vol 9, Issue 3
Abstract
Laurence-Moon-Bardet-Biedl (LMBB) syndrome is a rare autosomal recessive disorder characterized by structural and functional abnormalities of different organ and tissues. In 1920 Bardet described a female patient of 4 years old with the rodcone dystrophy, marked central obesity, polydactyly and mental retardation. Biedl studied two cases in 1992 and highlighted the complete scenario of clinical signs of LMBB syndrome which could be conceivable including skull abnormalities, anal atresia and gastrointestinal conflicts.
Authors and Affiliations
Divyashree P, Manu M A, Rekha T D, Dakshayani B, Sarala Sabapathy
Keywords
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- EP ID EP539219
- DOI 10.26611/1014932
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