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      Retinal Findings in Bardet-Biedl Syndrome

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          Abstract

          We report three cases of Bardet-Biedl syndrome (BBS) among which a young female and two siblings from a separate family, presented with common features of obesity, postaxial (ulnar) polydactyly, speech delay, developmental delay with learning difficulties and progressive deterioration of vision. Fundus examination revealed maculopathy and other remarkable findings in these patients. In this image of endocrinology, we describe the BBS phenotypes of these cases highlighting the fundus photography features with a plan for close follow up on obesity and endocrine complications.

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          Author and article information

          Journal
          Journal of the ASEAN Federation of Endocrine Societies
          JAFES
          Journal of the ASEAN Federation of Endocrine Societies (JAFES)
          08571074
          2308118X
          November 30 2014
          November 30 2014
          : 29
          : 2
          : 194-196
          Affiliations
          [1 ]Department of Endocrinology, Nilratan Sircar Medical College, Kolkata, West Bengal, India
          10.15605/jafes.029.02.15
          © 2014

          CC BY 3.0

          Endocrinology & Diabetes, Medicine, Internal medicine

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