Noonan's syndrome

(Jacqueline A. Noonan, 20th century, American paediatrician), association of small stature, failure to thrive in infancy, delayed puberty and facial dysmorphism, with a short neck, low hairline, and a flat shield-like chest. Inheritance is autosomal dominant. Radiologically, the features are nonspecific but include genu valgum, short fingers, syndactyly, kyphosis, scoliosis and Klippel Feil abnormalities. Cardiovascular anomalies are those of pulmonary stenosis and hypertrophic cardiomyopathy predominantly, although septal defects may also be demonstrated. There is a delayed bone age. See Noonans syndrome

HC