Bardet-Biedl Syndrome: a case report of delayed diagnosis with variable presentation and role of genetic testing in definitive diagnosis

Bardet-Biedl Syndrome: a case report of delayed diagnosis with variable presentation and role of genetic testing in definitive diagnosis

Abstract Background Bardet-Biedl syndrome (BBS) is a rare multisystemic autosomal recessive (AR) disorder, which falls under the spectrum of ciliopathic disorders. As BBS is a very rare entity in India, its diagnosis is most often missed during early child visits. The lack of a syndromic approach fo...

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Bibliographic Details
Main Authors: Gargi Ramesh Rekhawar, M. P. Bhavana, Vishal Dnyaneshwar Sawant, Sushma Save, Alpana Kondekar
Format: Article
Language:English
Published: SpringerOpen 2023-10-01
Series:Egyptian Pediatric Association Gazette
Subjects:
Bardet-Biedl syndrome
Retinal degeneration
Overweight
Global developmental delay
Interdisciplinary approach
Online Access:https://doi.org/10.1186/s43054-023-00196-5

Internet

https://doi.org/10.1186/s43054-023-00196-5

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