Literature DB >> 22421669

Bardet-Biedl syndrome: a rare case report from North India.

Sumir Kumar1, Bharat B Mahajan, Jyotisterna Mittal.   

Abstract

The Bardet-Biedl syndrome (BBS) is a rare ciliopathic human autosomal-recessive disorder, affecting multiple organ systems. Less than 15 cases have been reported from India. The authors present a classical case of BBS presenting to dermatology outpatient with hypogonadism and features such as marked central obesity, retinal dystrophy, polydactyly, structural renal abnormalities and mental retardation, along with a brief review of the literature. This case exemplifies the need for multidisciplinary management in such cases.

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Year:  2012        PMID: 22421669     DOI: 10.4103/0378-6323.93656

Source DB:  PubMed          Journal:  Indian J Dermatol Venereol Leprol        ISSN: 0378-6323            Impact factor:   2.545


  5 in total

1.  Bardet biedel syndrome: a very rare entity in India.

Authors:  Rupal V Dosi; Nikita R Bhatt; Annirudh P Ambaliya; Nitin N Sonune; Rushad D Patell
Journal:  J Clin Diagn Res       Date:  2013-09-10

2.  Primary Hypertension as the Presenting Feature of Laurence-Moon-Bardet-Biedl Syndrome: A Report of Two Children.

Authors:  Vijayakumary Thadchanamoorthy; Nadeesha Jayasekara; Kavinda Dayasiri
Journal:  Cureus       Date:  2021-01-11

3.  Bardet-Biedl syndrome with urogenital sinus presenting with acute renal failure in a neonate.

Authors:  Nandini K Bedi; Dhruv Grover
Journal:  Indian J Pediatr       Date:  2013-08-06       Impact factor: 1.967

4.  Laurence-Moon-Bardet-Biedl Syndrome: A Case Report.

Authors:  Bilal Ahmed Khan; Ashar Shahid; Maaz Bin Nazir; Kiran Shafiq Khan; Avinash Punshi
Journal:  Cureus       Date:  2019-09-10

5.  Bardet-Biedl syndrome: a case series.

Authors:  Omer Ali Mohamed Ahmed Elawad; Mumen Abdalazim Dafallah; Mohammed Mahgoub Mirghani Ahmed; Ahmed Abdalazim Dafallah Albashir; Sahar Mohammed Abbas Abdalla; Habiballa Hago Mohamed Yousif; Anwar Ali Elamin Daw Elbait; Moawia Elbalal Mohammed; Hassan Ismail Hassan Ali; Mohamed Mutasim Mohamed Ahmed; Najla Fouad Nassir Mohammed; Fadwa Hashim Mohamed Osman; Mussab Alnazeer Yousif Mohammed; Ejlal Ahmed Ebrahim Abu Shama
Journal:  J Med Case Rep       Date:  2022-04-29
  5 in total

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