Publication: Siblings with Bardet Beidl Syndrome
Date
2013
Authors
Article Type
Case Report
Journal Title
Journal ISSN
ISSN 1990-7974 eISSN 1990-7982
Volume Title
Pages
Pages: 236 - 238
Publisher
Nepal Paediatric Society (JNPS)
Abstract
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.
Description
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