A 6-year-old boy presents with short stature, hypertelorism, and webbed neck. Vital signs show BP 118/76 mmHg, HR 92 bpm, RR 20/min, temperature 37°C, and SpO2 98% on room air. Cardiac examination reveals a systolic ejection murmur best heard at the left upper sternal border. Echocardiography confirms valvular pulmonary stenosis with normal left ventricular function. He denies cyanosis or syncope. He takes no cardiac medications currently. Which genetic syndrome is most strongly associated with this constellation of findings?
- A)Marfan syndrome
- B)DiGeorge syndrome
- C)Turner syndrome
- D)Noonan syndromeGABARITO
- E)Williams syndrome
Explicação
Pulmonary valve stenosis is classically associated with Noonan syndrome, which can resemble Turner syndrome phenotypically but occurs in both sexes. The left upper sternal border systolic ejection murmur reflects right ventricular outflow obstruction. The dysm... Ver explicação completa e trilha adaptativa →