TY  - CHAP
M1  - Book, Section
TI  - Wolf-Hirschhorn Syndrome
A1  - Bissonnette, Bruno
A1  - Luginbuehl, Igor
A1  - Engelhardt, Thomas
Y1  - 2019
N1  - 
T2  - Syndromes: Rapid Recognition and Perioperative Implications, 2e
AB  - This  is  a  congenital  medical  condition  characterized  by  a  distinctive  facial  dysmorphism  resembling  in  infancy  to  a  “Greek  warrior’s  helmet  appearance.”  This  is  observed  in  patients  with  a  broad  bridge  between  the  nose  and  the  forehead,  microcephaly,  high  forehead  with  prominent  glabella,  ocular  hypertelorism,  epicanthus,  highly  arched  eyebrows,  short  philtrum,  downturned  mouth,  micrognathia,  and  poorly  formed  ears  with  numerous  pits/tags.  Developmental  delay  and  mental  retardation  of  variable  degree  is  present  in  all.  Other  features  include  severe  muscle  hypotonia,  seizures,  with  prenatal  onset.  Cardiac  malformations  are  observed  in  half  of  the  cases  and  consist  of  septal  defects,  pulmonary  valvular  stenosis,  and  patent  ductus  arteriosus.  Mental  retardation  is  usually  severe.  Initial  reports  have  suggested  a  predisposition  to  the  development  of  malignant  hyperthermia;  however,  subsequent  reports  have  failed  to  confirm  this  association  although  there  is  no  clear  position  about  it.  Antibody  immunodeficiencies  are  also  common,  particularly  for  the  IgA.  T-cell  immunity  is  otherwise  normal.  The  disease  is  associated  with  a  high  mortality  rate,  approximately  30%  within  the  first  2  years  of  life,  with  the  most  common  causes  of  death  being  lower  respiratory  tract  infections  and  congenital  heart  disease/cardiac  failure.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/16
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1164088333
ER  -