Siblings with Bardet Beidl Syndrome

Journal of Nepal Paediatric Society

MNG Nair²  Ram Peter¹  Priya Jose³ 

[1]Resident, Department of Paediatrics, Pondicherry Institute of Medical Sciences, Pondicherry

[2]Professor and Head of Department, Department of Paediatrics, Pondicherry Institute of Medical Sciences, Pondicherry

[3]Department of Paediatrics, Pondicherry Institute of Medical Sciences, Pondicherry

关键词: Bardet Beidl Syndrome;    hypothyroidism;    retinal degeneration;   

DOI  :  

学科分类：儿科学

来源: Nepal Paediatric Society

【 摘 要 】

Bardet Biedl syndrome is an autosomal recessive condition affecting many parts of the body. Incidence of BBS is 1 in 100000. Its clinical features varies in person to person though from same family too. We are reporting two siblings with Bardet Beidl syndrome with different clinical presentation.

【 授权许可】

Unknown