[태그:] Noonan Syndrome

1. Clinical Presentation: The Diagnostic Odyssey A 6-month-old male presented with feeding difficulties and failure to thrive. Echocardiography revealed Hypertrophic cardiomyopathy (HP:0001639) and mild Pulmonary valve stenosis (HP:0001642). Despite a strong clinical suspicion of Noonan syndrome, initial Chromosomal Microarray (CMA) was Normal. Instead of a “wait-and-see” approach, the clinical team opted for 3billion’s Whole Exome…