A RARE ASSOCIATION OF BARDET BIEDL SYNDROME WITH VERTICAL ORBITAL DYSTOPIA AND SITUS INVERSUS WITH DEXTROCARDIA
Journal Title: Journal of Evidence Based Medicine and Healthcare - Year 2015, Vol 2, Issue 7
Abstract
Bardet Biedl syndrome includes presence of retinitis pimentosa along with obesity, polydactyl, hypogonadism, renal deformities,and learning disabilities. Orbital dystopia is any type of abnormal displacement of the entire orbital cones and their contents that can occur in three different dimensional planes. Situs describes the anatomic position of cardiac atria and visera. Situs solitus is normal anatomic position and situs inversus is the mirror image of the situs solitus. We report a case of a 13 year old male whom we diagnosed as a case of BBS with rare association with vertical orbital dystopia and situs inversus with dextrocardia.
Authors and Affiliations
Naidu A. P. R. , Murali Krishna V, Srijana L
MANAGEMENT OF SMALL SIZE RENAL STONES
AIMS AND OBJECTIVES To find out the approach and management of small size renal stones. MATERIAL AND METHODS A search was performed in 2015, on various guidelines and articles, using the terms renal calculi, 1-2cm, <2cm,...
BACTERIAL PROFILE IN BURN WOUNDS WITH SPECIAL REFERENCE TO ANTIMICROBIAL AGENTS AND TOPICAL APPLICATIONS IN A TERTIARY CARE HOSPITAL- A 2 YEAR PROSPECTIVE STUDY
BACKGROUND Burn is one of the most devastating condition. It is seen in all age groups from a baby to the elderly. Burn injuries pose a big challenge to the medical fraternity. Burn injuries can have an effect on the ski...
A STUDY OF CENTRAL CORNEAL THICKNESS AND CORNEAL ENDOTHELIAL CHANGES IN TYPE 2 DIABETES MELLITUS
BACKGROUND Corneal endothelium plays an important role in maintaining the corneal transparency. Evaluation of corneal endothelial cell morphology and central corneal thickness (CCT) is important in a wide range of disord...
MOLECULAR ANALYSIS OF LGI4 GENE MUTATION IN JUVENILE MYOCLONIC EPILEPSY PATIENTS IN DRAVIDIAN LINGUISTIC POPULATION IN SOUTH INDIA
Juvenile Myoclonic Epilepsy (JME) or Janz syndrome is inherited disorder, otherwise neurologically normal. (1) The prevalence of JME is estimated around 3 in 10, 000. The genetic mutations in JME patients affecting non-i...
CREUTZFELDT-JAKOB DISEASE: A CASE REPORT
Prion diseases are a group of fatal neurodegenerative diseases caused by the transformation of an endogenous protein, PrP (prion-related protein), into an abnormal conformation, the most common of which in humans is Creu...