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Case Studies | Medicine Science | India | Volume 4 Issue 2, February 2015
Laurence Moon Bardet Biedl Syndrome- Case Report and Review of Literature
Dr.P.Rajasekhar | Dr.M.Parni Kumar | Dr.P.S.Aalekhya
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
Edition: Volume 4 Issue 2, February 2015,
Pages: 285 - 286