RT Book, Section A1 Appachi, Elumalai A2 Usatine, Richard P. A2 Sabella, Camille A2 Smith, Mindy Ann A2 Mayeaux, E.J. A2 Chumley, Heidi S. A2 Appachi, Elumalai SR Print(0) ID 1114880872 T1 Noonan Syndrome T2 The Color Atlas of Pediatrics YR 2015 FD 2015 PB McGraw-Hill Education PP New York, NY SN 978-0-07-176701-9 LK accesspediatrics.mhmedical.com/content.aspx?aid=1114880872 RD 2024/10/10 AB A 3-year-old boy is brought to see his pediatrician for a health maintenance visit. During the exam, the pediatrician notes that the child’s face lacks expression, has a short neck with excessive skin, a low hairline, low set ears, and a short broad nose (Figure 226-1). The child is appropriate for weight but his height is well below the third percentile. An audible systolic ejection murmur is heard. The pediatrician refers the child to a pediatric cardiologist who makes the diagnosis of pulmonic stenosis from physical exam and echocardiogram. Based on these findings, the pediatrician and cardiologist make a clinical diagnosis of Noonan syndrome, which is confirmed by genetic testing. A multidisciplinary approach to the child’s care is planned.