Sanjeev Kumar's scientific contributions

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Publications (1)

Figure 1: Polydactyly in bilateral hand and left feet.
Figure 3: CT urography s/o a heterogenous density lesion with multiple foci of fat and soft tissue in left adrenal? myelolipoma? adenoma. DISCUSSION Bardet-Biedl syndrome is an autosomal recessive. It is genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney BBSome, a stable complex involved in signalling receptor trafficking to and from cilia summary by Scheidecker et al. 2
A rare case of polydactyly with multiple defects
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January 2020

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50 Reads

International Journal of Advances in Medicine

Sanjeev Kumar

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Pradeep Kumar Bansal

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Rohit Ishran

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Rajendra Kasana

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. Patient’s 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.

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