Case Highlights Unusual Respiratory Features in Severe Bardet-Biedl Syndrome

Case Highlights Unusual Respiratory Features in Severe Bardet-Biedl Syndrome

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Case Highlights Unusual Respiratory Features in Severe Bardet-Biedl Syndrome

A case study of a baby with Bardet-Biedl syndrome (BBS) highlights the unusual respiratory features that result from inheriting two mutant copies of the BBS10 gene.  The report, “Bardet-Biedl syndrome presenting with laryngeal web and bifid epiglottis,” was published in the journal BMJ Case Reports. BBS is a genetic disorder characterized by obesity, progressive vision loss, polydactyly (extra fingers or toes), impaired function of the sex glands, intellectual disability, and kidney abnormalities. The disorder is…

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