Laurence Moon Bardet Biedl Syndrome- Case Report and Review of Literature
Abstract: Laurence Moon Bardet Biedl syndrome is an autosomal recessive genetic disorder with variable expressivity and a wide range of clinical variability observed both within and between families. It includes Laurence Moon syndrome with features of Retinitis pigmentosa (Rod-cone dystrophy), mental retardation, hypogenitalism and spastic paresis and Bardet Biedl syndrome as Retinitis pigmentosa, obesity, postaxial polydactyly, learning disabilities and hypogenitalism in males. We report a typical case of Laurence Moon Bardet Biedl syndrome in a female showing all ocular features, most of the general features and a typical family history. There is a typical early onset of blindness in this case.
Keywords: Retinitis pigmentosa, polydactyly, mental retardation, hypogenitalism, obesity, consanguinous marriage
How to Cite?: Dr.P.Rajasekhar, Dr.M.Parni Kumar, Dr.P.S.Aalekhya, "Laurence Moon Bardet Biedl Syndrome- Case Report and Review of Literature", Volume 4 Issue 2, February 2015, International Journal of Science and Research (IJSR), Pages: 285-286, https://www.ijsr.net/getabstract.php?paperid=SUB151104, DOI: https://dx.doi.org/10.21275/SUB151104