http://www.ijmrhs.com/medical-research/herpes-zoster-an-update.pdf
Journal Title: International Journal of Medical Research & Health Sciences (IJMRHS) - Year 2013, Vol 2, Issue 4
Abstract
Severe Peter plus Syndrome is a rare autosomal recessive condition that is characterized by ocular anomaly and associated with other systemic major or minor anomalies. Mutations of B3GALTL gene encoding beta 1,3 glucosyltransferase have been seen in patients with Peter Plus Syndrome.1 We report a male patient with unusually severe manifestations of Peter Plus Syndrome including prominent forehead, long area between nose and mouth (philtrum), pronounced double curve of the upper lip, Anterior Eye Staphyloma (Bilateral), retrognathia, widely spaced nipples and Fallot’s tetralogy. To our knowledge Fallot has not been reported previously in Peter plus Syndrome and bilateral anterior staphyloma, a most severe anterior chamber eye defect i s also apparently rare in this syndrome. Our patient might represent a new variant of severe Peter plus syndrome wit h anterior eye Staphyloma and Fallot’s tetralogy.
Authors and Affiliations
Dhananjay Y Shrikhande| Professor and Head, Department of Pediatrics, Pravara Institute of Medical Sciences, Loni, Maharashtra, India, Amol Pokharkar| Post graduate student, Department of Pediatrics, Pravara Institute of Medical Sciences, Loni, Maharashtra, India, Corresponding author email: amolpokharkar87.ap@gmail.com, Jayshree Jadhav| Associate Professor, Department of Pediatrics, Pravara Institute of Medical Sciences, Loni, Maharashtra, India, Divyank Pathak| Post graduate student, Department of Pediatrics, Pravara Institute of Medical Sciences, Loni, Maharashtra, India, Vivek Dholakiya| Post graduate student, Department of Pediatrics, Pravara Institute of Medical Sciences, Loni, Maharashtra, India, Amit Narkhede| Post graduate student, Department of Pediatrics, Pravara Institute of Medical Sciences, Loni, Maharashtra, India
Keywords
Related Articles
- EP ID EP11087
- DOI 10.5958/j.2319-5886.2.4.155
- Views 330
- Downloads 16
The Investigation of Relationship between Height and Deep Vein Thrombosis
According to Virsho triad, the blood stasis plays an important role in venous thrombosis, and it seems that their height affects the risk of venous thrombosis. For this reason, considering the pressure difference betwee...
Glycodelin (PAEP) gene promoter polymorphism rs760140467 C>T is associated with recurrent pregnancy loss
In the absence of confirmed causes for around 50% of recurrent pregnancy loss (RPL) cases this study was conducted in order to evaluate the relationship between PAEP gene single nucleotide polymorphism (SNP) rs76014046...
PREVALENCE OF HEPATITIS B AND C VIRAL MARKERS AMONG THE TRIBAL POPULATION OF NILGIRIS, TAMIL NADU
Hepatitis B virus and C viruses (HBV and HCV, respectively) infects the liver which results in a wide range of disease outcomes. Worldwide, over 7% (350 million) and 3% (170 million) people are chronically infected wit...
The relationship between the numbers of reflux episodes with anatomic changes of the esophagus in children under one year with gastroesophageal reflux disease
Gastroesophageal reflux is the most common gastrointestinal disorder in the neonatal period, and the main reason for it is the lack of development in the first months of an infant's digestive system and it gets improved...
Cynodon dactylon Rhizome Extract Decreases the Cardiovascular Biomarkers (Cardiac Troponin I And Homocysteine) and Adenosine Deaminase Activity in Streptozotocin-Induced Diabetes Mellitus in Rats
Objective: The aim of this study was to evaluate the plasma changes of cardiac troponin I level (cTnI), homocysteine (Hcy) and the activity of adenosine deaminase (ADA) in the streptozotocin-induced diabetes mellitus an...