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 1114880729
T1 Marfan 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=1114880729
RD 2023/03/27
AB A  14-year-old  girl  is  brought  to  her  pediatrician  for  a  routine  health  maintenance  visit.  The  pediatrician  notes  that  she  is  tall  for  her  age,  has  long,  slender  fingers,  hypermobile  joints,  and  that  her  arm  span  is  longer  than  her  body  span  (Figures  223-1  to  223-3).  She  also  has  a  high  arched  palate  and  a  systolic  murmur.  The  pediatrician  refers  the  girl  to  a  cardiologist,  who  performs  an  echocardiogram,  which  reveals  mitral  valve  prolapse  without  regurgitation,  and  dilatation  of  the  aortic  root.  The  pediatrician  and  cardiologist  suspect  that  the  child  has  Marfan  syndrome  and  order  a  test  for  fibrillin  1  mutation,  which  confirms  the  diagnosis.  Her  pediatrician  plans  a  multidisciplinary  team  for  the  girl,  including  baseline  and  follow-up  ophthalmology  examinations,  and  close  follow-up  visits  with  the  cardiologist,  orthopedist,  and  geneticist.