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Papers of the Week

2022 Apr 29

J Med Case Rep



Bardet-Biedl syndrome: a case series.


Elawad O A M A, Dafallah M A, Ahmed M M M, Albashir A A D, Abdalla S M A, Yousif H H M, Daw Elbait A A E, Mohammed M E, Ali H I H, Ahmed M M M, Mohammed N F N, Osman F H M, Mohammed M A Y, Abu Shama E A E
J Med Case Rep. 2022 Apr 29; 16(1):169.
PMID: 35484558.


Bardet-Biedl syndrome is a rare multisystem autosomal recessive disorder that falls under the spectrum of ciliopathy disorders. It is characterized by rod-cone dystrophy, renal malformations, polydactyly, learning difficulties, central obesity, and hypogonadism. Many minor features that are related with Bardet-Biedl syndrome might aid in diagnosis and are crucial in clinical management. Bardet-Biedl syndrome is diagnosed on the basis of clinical signs and symptoms, which can be confirmed by genetic testing. Here we present four cases of Bardet-Biedl syndrome. To our knowledge, these are the first cases of Bardet-Biedl syndrome reported from Sudan.