A rare case of polydactyly with multiple defects
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Date
2020-02
Journal Title
Journal ISSN
Volume Title
Publisher
Medip Academy
Abstract
Bardet-Biedl Syndrome (BBS) is a very rare genetically heterogenous disorder. Here is a case of 27 yr. old obese male presented with acute gastroenteritis with shock in our department. He had polydactyly in both upper limb and left lower limb, blindness since childhood, with difficult in learning and delayed onset of milestones. Patientæ¯ sibling (younger brother 20-year-old) also had same problems since childhood and one female baby died within few days of birth. He was having single testis. Patient was managed conservatively. The available literature on this syndrome was reviewed.
Description
Keywords
Bardet-Biedl Syndrome, Blindness, Heterogenous disorder, Milestone, Obese, Polydactyly
Citation
Kumar Sanjeev, Bansal Pradeep Kumar, Ishran Rohit, Kasana Rajendra. A rare case of polydactyly with multiple defects. International Journal of Advances in Medicine. 2020 Feb; 7(2): 334-336