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
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- EP ID EP11087
- DOI 10.5958/j.2319-5886.2.4.155
- Views 318
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