Laurence Moon Bardet Biedl Syndrome: A Rare Case Report in A Tertiary Care Teaching Hospital, Hyderabad, Telangana, India

Submitted by sys1 on Wed, 03/01/2017 - 17:05
International Journal of Medicine and Public Health,2017,7,1,68-71.
Published:March 2017
Type:Case Report

Laurence Moon Bardet Biedl Syndrome: A Rare Case Report in A Tertiary Care Teaching Hospital, Hyderabad, Telangana, India

Pathan Amanulla Khan1, Juwerriah Nishaat2, Sobia Noor3, Naureen Fatima2

1Clinical Pharmacist, Wood lands Multi Specialty Hospital, Barkatpura, Hyderabad, INDIA.

2Department Of Pharmacy, Anwar- Ul-Uloom College of Pharmacy, New Malleypally, Hyderabad, INDIA.

3Department of Pharmacy Practice, Anwar-Ul-Uloom College of Pharmacy, New Malleypally, Hyderabad, INDIA.

Abstract:

Laurence Moon Bardet Beidl Syndrome is a rare Ciliopathic and Pleiotrophic human Autosomal recessive genetic disorder, which involves affects and effects on multiple organ system. Consanguineous marriage is usually the common cause. The characteristic feature 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 here present a case report of 18 year old male patient presenting in medicine department with weakness of both lower limbs, inability to walk, progressive loss of vision and polydactyly.

Modified diagnostic criteria for Bardet-Biedl syndrome6

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