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BMJ Case Reports 2012; doi:10.1136/bcr.12.2011.5320
  • Rare disease

Oro-dental findings in Bardet–Biedl syndrome

  1. Preeti P Nair5
  1. 1Department of Oral and Maxillofacial Surgery, Rishiraj Dental College & Hospital, Bhopal, Madhya Pradesh, India
  2. 2Department of Oral Medicine and Radiology, Rishiraj Dental College & Hospital, Bhopal, Madhya Pradesh, India
  3. 3Department of Conservative Dentistry, Rishiraj Dental College & Hospital, Bhopal, Madhya Pradesh, India
  4. 4Department of Oral and Maxillofacial Surgery, People’s Dental Academy, Bhopal, Madhya Pradesh, India
  5. 5Department of Oral Medicine and Radiology, People’s College of Dental Sciences & Research Centre, Bhopal, Madhya Pradesh, India
  1. Correspondence to Professor Preeti P Nair, shajihoss{at}gmail.com

Summary

The Bardet–Biedl syndrome (BBS) is a human genetic disorder with an array of clinical features affecting many body systems. BBS is a pleiotropic disorder with mostly monogenic causes. It is also considered a primary ciliopathy syndrome. It is characterised by obesity, pigmentary retinopathy, polydactyly, mental deficiency and hypogonadism and recently a sixth feature, renal disease, has also been described. Since none of the diverse symptoms of BBS by itself is diagnostic of the disorder and many of the symptoms only become apparent over time, diagnosis of the BBS is often delayed until about 9 years of age when visual problems first appear.

Footnotes

  • Competing interests None.

  • Patient consent Obtained.

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