A Case of Noonan Syndrome Associated with Nephrotic Syndrome, Pituitary Mass and Pes Varus

 Elizabeth Paz-Pacheco,1 Ma. Luisa D. Enriquez,2 Ramon D.S. Francisco,3 Wilfred G. Dee4 and
Mark Anthony S. Sandoval1

1Section of Endocrinology, Diabetes and Metabolism, Department of Medicine, College of Medicine and 
Philippine General Hospital, University of the Philippines Manila
2Physics Department/Biology Department, CENSER, College of Science, De La Salle University
3Makati Medical Center
4Section of Cardiology, Department of Medicine, College of Medicine and
Philippine General Hospital, University of the Philippines Manila

We report a case of a Filipino male diagnosed with Noonan syndrome on the baseis of facial dysmorphism, chest deformity, short stature, mental and skeletal retardation, pulmonic stenosis and hypogonadism. In addition, he has three clinical features which are not known to be associated with the syndrome and are perhaps being reported for the first time: structurally normal kidneys with nephrotic syndrome, pituitary macroadenoma and pes varus.

Key Words: Noonan syndrome, congenital anomalies, genetics, nephrotic syndrome, pituitary mass, pes varus