Bardet-Biedl syndrome

  • Mujammel Haque Department of Pediatrics, Bangabandhu Sheikh Mujib Medical University, Kazi Nazrul Islam Avenue, Shahbag, Dhaka
  • Md. Fakhrul Alam Department of Pediatrics, Bangabandhu Sheikh Mujib Medical University, Kazi Nazrul Islam Avenue, Shahbag, Dhaka
  • Suraiya Begum Department of Pediatrics, Bangabandhu Sheikh Mujib Medical University, Kazi Nazrul Islam Avenue, Shahbag, Dhaka
  • Shahana A. Rahman Department of Pediatrics, Bangabandhu Sheikh Mujib Medical University, Kazi Nazrul Islam Avenue, Shahbag, Dhaka
Keywords: Bardet-Biedl syndrome

Abstract

The Bardet-Biedl syndrome is a rare genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. It presents with varied clinical manifestations like retinitis pigmentosa, polydactyly, central obesity, mental retardation and renal dysfunction. Other rare manifestations include diabetes mellitus, heart disease, hepatic fibrosis and neurological manifestations. Mutations in 16 genes have been identified as causative factors. We, here, have presented a 12 year old male patient exhibiting characteristic features of Bardet Biedl syndrome.

 

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Author Biography

Shahana A. Rahman, Department of Pediatrics, Bangabandhu Sheikh Mujib Medical University, Kazi Nazrul Islam Avenue, Shahbag, Dhaka
Professor
Published
2016-08-18
How to Cite
Haque, M., Alam, M., Begum, S., & Rahman, S. (2016). Bardet-Biedl syndrome. Bangabandhu Sheikh Mujib Medical University Journal, 9(2), 119-122. https://doi.org/10.3329/bsmmuj.v9i2.29196
Section
Case Reports