TY - CHAP M1 - Book, Section TI - Noonan Syndrome 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 Y1 - 2015 N1 - T2 - The Color Atlas of Pediatrics 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. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/10/08 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1114880872 ER -