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J Pediatr Genet 2013; 02(01): 049-051
DOI: 10.3233/PGE-13048
Case Report
Georg Thieme Verlag KG Stuttgart – New York

Bardet-Biedl syndrome in two sisters: A rare incidence

Chaitanya Varma
a   Department of Pediatrics, Kasturba Medical College, Manipal, Karnataka, India
,
Ramesh Y. Bhat
a   Department of Pediatrics, Kasturba Medical College, Manipal, Karnataka, India
,
Sonia Bhatt
a   Department of Pediatrics, Kasturba Medical College, Manipal, Karnataka, India
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21. April 2012

16. Oktober 2012

Publikationsdatum:
27. Juli 2015 (online)

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Abstract

Bardet-Biedl syndrome is an autosomal recessive disorder characterized by retinitis pigmentosa, obesity, polydactyly, mental retardation and hypogonadism. We present two sisters with this rare genetic condition.

Keywords

Bardet-Biedl - hypogonadism - polydactyly - retinal dystrophy - sibling