Article: Siblings with Bardet Beidl Syndrome
Abstract:
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.
Ram Peter
Resident, Department of Paediatrics, Pondicherry Institute of Medical Sciences, Pondicherry
Priya Jose
Department of Paediatrics, Pondicherry Institute of Medical Sciences, Pondicherry
MNG Nair
Professor and Head of Department, Department of Paediatrics, Pondicherry Institute of Medical Sciences, Pondicherry
Keywords
Bardet Beidl Syndrome, hypothyroidism, retinal degeneration
Identifier
https://doi.org/10.3126/jnps.v33i3.8081
Citation
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