Siblings with Bardet Beidl Syndrome

Authors

  • 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

DOI:

https://doi.org/10.3126/jnps.v33i3.8081

Keywords:

Bardet Beidl Syndrome, hypothyroidism, retinal degeneration

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.

DOI: http://dx.doi.org/10.3126/jnps.v33i3.8081  

J. Nepal Paediatr. Soc. 2013;33(3):236-238

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Author Biography

Ram Peter, Resident, Department of Paediatrics, Pondicherry Institute of Medical Sciences, Pondicherry

paediatrics

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Published

2013-12-16

How to Cite

Peter, R., Jose, P., & Nair, M. (2013). Siblings with Bardet Beidl Syndrome. Journal of Nepal Paediatric Society, 33(3), 236–238. https://doi.org/10.3126/jnps.v33i3.8081

Issue

Vol. 33 No. 3 (2013)

Section

Brief Reports/Case Reports/Case Series

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