Authors: Dhananjay Y Shrikhande, Amol Pokharkar, Jayshree Jadhav, Divyank Pathak , Vivek Dholakiya
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 is also apparently rare in this syndrome. Our patient might represent a new variant of severe Peter plus syndrome with anterior eye Staphyloma and Fallot’s tetralogy.
Keywords: Severe Peter Plus syndrome, Fallot’s tetralogy, Anterior eye staphyloma, Retrognathia