RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164088131
T1 Williams Syndrome
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164088131
RD 2024/04/23
AB A  syndrome  characterized  by  the  presence  of  peculiar  facial  features  such  as  broad  forehead,  short  nose  and  full  cheeks,  giving  an  appearance  of  an  “elfin  (a  small  and  delicate  person  in  the  enchanted  world,  typically  with  an  attractively  mischievous  and/or  strange  charm).”  Other  clinical  features  include  mild  to  moderate  intellectual  disability,  very  pleasant  personality  and  ability  to  interact  readily  with  strangers.  It  is  associated  with  infantile  hypercalcemia,  cardiac  defect  in  80%  (supravalvular  aortic  stenosis  and  peripheral  pulmonary  artery  stenoses),  and  a  high  incidence  of  sudden  death.  Recent  research  has  shown  that  the  QTc  interval  in  Williams  Syndrome  (WS)  patients  is  significantly  prolonged  and  may  be  associated  with  the  sudden  death.