RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164087715
T1 Waardenburg Syndrome
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accessanesthesiology.mhmedical.com/content.aspx?aid=1164087715
RD 2024/04/18
AB It  is  a  rare  genetic  disorder  characterized  by  deafness  (represents  up  to  3%  of  all  cases  of  children  deafness  at  school  age),  hypopigmentation  of  the  skin,  iris  colored  differences  between  eyes,  hair  and  stria  vascularis  of  the  cochlea,  and  the  presence  of  minor  defects  caused  by  neural  crest  anomalies.  The  most  striking  characteristic  observed  in  most  patients  is  the  presence  of  two  different  colored  eyes,  white  forelock  and  eyelashes,  and  premature  graying  of  the  hair.  Other  clinical  features  include  a  moderate  acrocephaly,  lack  of  osseous  fusion  of  the  short  tubular  bones,  oligodactyly  of  the  feet,  short  stature,  cyanotic  cardiopathy,  laryngomalacia,  pericardial  cysts,  rectal  prolapse,  and  deformed  ears.  Other  signs  include  a  hypoplastic  maxilla,  multiple  muscle  contractures,  limited  neck  movements,  asymmetry  of  hands,  deformity  of  the  first  phalanx  of  the  head,  absence  of  the  first  digit  of  the  foot,  and  bifid  distal  phalanges  of  the  second  and  third  toes.