RT Book, Section
A1 Newton, Lisanne
A1 Schroer, Brian
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 1114880369
T1 DiGeorge 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=1114880369
RD 2024/04/16
AB A  newborn  infant  is  noted  to  have  micrognathia,  a  bulbous  nasal  tip,  a  crumpled  ear  helix  (Figure  216-1),  hooded  eyes,  a  high  arched  palate,  and  a  submucosal  cleft  palate.  She  was  diagnosed  prenatally  with  Tetralogy  of  Fallot.  Tetany  due  to  hypocalcemia  is  noted  in  the  first  48  hours  of  life  and  requires  treatment.  A  chest  x-ray  obtained  is  notable  for  absence  of  a  thymic  shadow  (Figure  216-2).  Immunologic  laboratory  data  reveal  CD3+  T  cells  are  <500/mm3.  Chromosomal  analysis  is  sent  and  reveals  a  deletion  of  chromosome  22q11.2.  She  undergoes  surgical  repair  of  her  heart  lesion  at  one  week  of  age,  and  requires  close  follow-up  of  her  cardiac,  immunological,  and  metabolic  problems.