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
PY  - 2015
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  - 2024/04/20
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1114880872
ER  -