Bardet-Biedl Syndrome: Delayed Diagnosis in a 14-year-old Child with End-stage Renal Disease

Overview

Journal Clin Case Rep

Date 2023 Jul 7

PMID 37415582

Authors

Mohammad Rasel

Ashif Istiak

Afra Saiara

Abdullah Al-Jubair

Shariful Matin

Gobinda Chandra Roy

Affiliations

Soon will be listed here.

Abstract

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathic disorder. Because of its low prevalence and wide spectrum of clinical features, many patients remain undiagnosed. We report a case of a 14-year-old boy with a typical phenotype of BBS who remains undiagnosed until the development of end-stage renal disease.

Citing Articles

Bardet-Biedl syndrome: Delayed diagnosis in a 14-year-old child with end-stage renal disease.

Rasel M, Istiak A, Saiara A, Al-Jubair A, Matin S, Roy G Clin Case Rep. 2023; 11(7):e7649.

PMID: 37415582 PMC: 10319965. DOI: 10.1002/ccr3.7649.

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