A Rare Genetic Disorder – Bardet Biedl Syndrome

Journal Title: IJAR-Indian Journal of Applied Research - Year 2015, Vol 5, Issue 9

Abstract

A 24 years old male patient was admitted to the infectious ward for gastroenteritis from which he recovered in a day. Patient also hadpolydactyly, poor vision, cognitive impairment, learning difficulties,clumsy gait & pedal oedema. After investigating and thorough examination, a diagnosis of Bardet Biedl Syndrome (BBS) was made.

Authors and Affiliations

Dr. Mangala Borkar Sonavani, Dr. Shailaja Rao, Dr. Akshay Kashid, Dr. Sunita Patil, Dr. Vimlesh Pandey, Dr. Rohit Walse

Keywords

Related Articles

Effectiveness of Nesting on Posture and Movement of Upper Extremities in Healthy Preterm Infants

Background &Aim: Preterm babies are the delicate lives to be taken care of very intelligently as well as delicately, a helpful step for the preterm to maintain his posture and smooth movement and that is “Nesting” . It i...

KNOWLEDGE, ATTITUDE, PRACTICES OF DISULFIRAM AMONGST RELATIVES OF PATIENT WITH ALCOHOL USE DISORDER.

KAP (Knowledge, Attitude and Practice) studies are highly focused evaluations to measure changes in response to a specific intervention, usually outreach, demonstration or education. This study was conducted to assess KA...

STUDY OF THYROID PROFILE AND PROLACTIN IN INFERTILE WOMEN: A CASE CONTROL STUDY.

Background: In Indian societies womanhood is defined through motherhood and infertile women usually carry the blame for the couple’s inability to conceive. In many cases, the childless woman is made to feel inferior and...

Evaluation of Myopics for Open Angle Glaucoma and Estimation of Risk

Background: There is high prevalence of myopia in India and there is appreciable incidence of open- an gle glaucoma in myopes .The aim is to screen the myopes for open angle glaucoma and its correlation. Methods: We stud...

Right Iliac Fossa Mass : A Surgical Dilemma

Right iliac fossa mass is a surgical dilemma a surgeon encounters in surgical practice arriving to diagnosis of which is dificult. Various conditions presenting as lump includes spectrum of diseases like appenicular lump...

Download PDF file
  • EP ID EP539492
  • DOI -
  • Views 40
  • Downloads 0

How To Cite

Dr. Mangala Borkar Sonavani, Dr. Shailaja Rao, Dr. Akshay Kashid, Dr. Sunita Patil, Dr. Vimlesh Pandey, Dr. Rohit Walse (2015). A Rare Genetic Disorder – Bardet Biedl Syndrome. IJAR-Indian Journal of Applied Research, 5(9), 12-13. https://europub.co.uk/articles/-A-539492