International Journal of Science and Research (IJSR)

International Journal of Science and Research (IJSR)
Call for Papers | Fully Refereed | Open Access | Double Blind Peer Reviewed

ISSN: 2319-7064


Downloads: 126 | Views: 300 | Weekly Hits: ⮙1 | Monthly Hits: ⮙1

Case Studies | Medical Science | India | Volume 8 Issue 8, August 2019 | Popularity: 6.3 / 10


     

Laurence Moon Bardet Biedl Syndrome: A Rare Case Report in a Tertiary Care Teaching Hospital, Aurangabad, Maharashtra

Anup Latne, Pramod Wattamwar, Mahesh Thakare


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 30 year old male patient presenting in medicine department with uncontrolled blood sugar levels, morbid obesity, progressive loss of vision and polydactyly.


Keywords: Obesity, Hypogonadism, Retinitis Pigmentosa, Para paresis, Mental retardation, rod cone dystrophy


Edition: Volume 8 Issue 8, August 2019


Pages: 1554 - 1556



Make Sure to Disable the Pop-Up Blocker of Web Browser




Text copied to Clipboard!
Anup Latne, Pramod Wattamwar, Mahesh Thakare, "Laurence Moon Bardet Biedl Syndrome: A Rare Case Report in a Tertiary Care Teaching Hospital, Aurangabad, Maharashtra", International Journal of Science and Research (IJSR), Volume 8 Issue 8, August 2019, pp. 1554-1556, https://www.ijsr.net/getabstract.php?paperid=ART2020659, DOI: https://www.doi.org/10.21275/ART2020659



Similar Articles

Downloads: 4 | Weekly Hits: ⮙1 | Monthly Hits: ⮙1

Informative Article, Medical Science, India, Volume 13 Issue 3, March 2024

Pages: 223 - 224

Cachexia: An Unsolved Puzzle

Mohammed Shanil P, Farsana Jasmin K

Share this Article

Downloads: 119

Research Paper, Medical Science, India, Volume 2 Issue 1, January 2013

Pages: 162 - 164

Cochlear Implant in Deaf and Blind Patient

Rajesh Vishwakarma, Kalpesh Patel, Simple Patadia, Pratibha Goswami, Chandrakant Vishwakarma

Share this Article
Top