Clinical Diagnosis of Noonan Syndrome and Brief Review of Literature

Author(s):

Henriette Poaty*, Aurore Mbika-Cardorelle, Constantin Moukouma and Abraham Mouko

We report a six-year-old female child with clinical features evocative of the Noonan syndrome: short stature, short neck associated with distinct facial dysmorphism and congenital heart defects, skeletal anomalies and excessive hair growth on the anterior trunk. She has no mental retardation. Chest X-ray revealed cardiomegaly and echocardiography, a pulmonary stenosis with atrial septal defect. Cytogenetic analysis identified 46, XX, eliminating a Turner syndrome.