Siblings with Bardet Beidl Syndrome

[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.

[学科分类] 儿科学

[关键词] Bardet Beidl Syndrome;hypothyroidism;retinal degeneration