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Laurence Moon Bardet Biedl Syndrome- Case Report and Review of Literature

Journal: International Journal of Science and Research (IJSR) (Vol.4, No. 2)

Publication Date:

Authors : ; ; ;

Page : 285-286

Keywords : Retinitis pigmentosa; polydactyly; mental retardation; hypogenitalism; obesity; consanguinous marriage;

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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.

Last modified: 2021-06-30 21:22:46