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

被引：0

作者：

Rasel, Mohammad ^{[1
,2
]}

Istiak, Ashif ^{[1
,2
]}

Saiara, Afra ^{[1
,2
]}

Al-Jubair, Abdullah ^{[1
]}

Matin, Shariful ^{[1
]}

Roy, Gobinda Chandra ^{[1
]}

机构：

[1] Shaheed Suhrawardy Med Coll Hosp, Dhaka, Bangladesh

[2] Bangladesh Coll Phys & Surg, Dhaka, Bangladesh

来源：

CLINICAL CASE REPORTS | 2023年 / 11卷 / 07期

关键词：

Bardet-Biedl syndrome; central obesity; end-stage renal disease; polydactyly; retinitis pigmentosa; OBESITY;

D O I：

10.1002/ccr3.7649

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Key Clinical MessageBardet-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.

引用

页数：6

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