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Bardet-Biedl syndrome presented as chronic kidney disease with rare clinical associations in a Sudanese woman (case report)
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  • Omer Elawad,
  • Mohammed Ahmed,
  • Ahmed Albashir,
  • Habiballa Yousif,
  • Mohamed Mohamed Ahmed
Omer Elawad
University of Gezira Faculty of Medicine
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Mohammed Ahmed
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Ahmed Albashir
University of Gezira Faculty of Medicine
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Habiballa Yousif
University of Gezira Faculty of Medicine
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Mohamed Mohamed Ahmed
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Abstract

Abstract: Bardet–Biedl syndrome is a rare autosomal recessive disorder falls under the spectrum of ciliopathy disorders. Its characterized by rod-cone dystrophy, renal malformations, postaxial polydactyly, learning difficulties, central obesity and hypogonadism. Hyponatremia, hepatic haemangioma, gall bladder stones and subclinical hypothyroidism rarely described in the literature as clinical presentations in BBS.