Volume : IX, Issue : I, January - 2019

BARDET BIEDL SYNDROME-A RARE CASE REPORT

Dr. Amar Verma, Dr. Ravindra Kumar Verma, Dr. Rani Manisha, Dr. Rakesh Ranjan

Abstract :

Laurence Moon Bardet Beidl Syndrome is a rare ciliopathic and pleiotrophic human autosomal recessive genetic disorder, which involves & affects multiple organ system. Consanguinity is commonly found amongst parents of this condition. The characteristic features of the disorder are progressive rod cone dystrophy, atypical retinitis Pigmentosa, myopia, central obesity, mental retardation, Anisometropia, Astigmatism, Postaxial Polydactyly, Hypogonadism in males, renal involvement. It affects males and females equally. The treatment of Laurence Moon Bardet Beidl Syndrome is usually directed towards the specific symptoms that are apparent in each individual. We present a case report of 16 year old male patient presenting in pediatric department with progressive loss of vision, headache, obesity,weakness & polydactyly. The history of consanguinity is absent in this index case.

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Article: Download PDF   DOI : 10.36106/ijar  

Cite This Article:

BARDET BIEDL SYNDROME-A RARE CASE REPORT, Dr. Amar verma, Dr. Ravindra Kumar Verma, Dr. Rani Manisha, Dr. Rakesh Ranjan INDIAN JOURNAL OF APPLIED RESEARCH : Volume-9 | Issue-1 | January-2019

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