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 290
- Downloads 16
STUDY OF BACTERIOLOGY IN CHRONIC SUPPURATIVE OTITIS MEDIA
The present study was to know the different etiological aerobic and anaerobic bacteria in chronic suppurative otitis media and also its antibiogram. Methods: The total 128 specimens collected by aseptical conditions an...
The Lived Experiences of Newly Nurses’ Preceptors of Preceptorship: An Interpretative Phenomenological Study
Newly graduated nurses and those experienced nurses who enter a new workplace need preceptors for being orientation to an unfamiliar work environment. The aim of this study was to explore the lived experiences of newly...
Prevalence of sexual dysfunction among women using contraceptive methods
Introduction: The world health organization defines sexual health as a coordination and integration between mind, body and feelings which leads an individual towards personality improvement, relationship and love. The a...
THE IMPACT OF DIAGNOSTIC DISCREPANCIES IN AORTIC DISSECTION MANAGEMENT
Aortic dissection is uncommon with high mortality rate if untreated. We report a challenging case of long segment aortic dissection in which the dissection type was very difficult to identify due to limitations of the...
Surgically treated early stage cervical cancer – Prognostic factors and adjuvant treatment
Invasive cancer of cervix is considered a preventable disease as it has a long pre-invasive state. If detected in early stages i.e upto stage IIA1 the disease is curable with good survival rates. • To identify the pr...