RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164079297
T1 Mowat-Wilson 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=1164079297
RD 2024/04/20
AB It  is  an  autosomal  dominant  complex  developmental  disorder  characterized  by  the  association  of  Hirschsprung’s  disease,  intellectual  disability,  and  epilepsy.  Other  features  include  short  stature,  microcephaly,  severe  mental  retardation,  delayed  motor  development,  epilepsy,  and  a  wide  spectrum  of  clinically  heterogeneous  features  suggestive  of  neurocristopathies  at  the  cephalic,  cardiac,  and  vagal  nerve  levels.  The  presence  of  congenital  heart  disease,  genitourinary  anomalies  and  absence  of  the  corpus  callosum  complete  the  diagnosis.