AMHSR

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.


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