RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164074368
T1 Juberg-Marsidi 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=1164074368
RD 2024/04/25
AB It  is  a  very  rare  X-linked  recessive  syndrome  characterized  by  severe  mental  retardation,  seizures,  deafness,  failure  to  thrive,  midface  hypoplasia,  microgenitalism,  and  early  death.  It  is  fully  expressed  in  males  only  and  present  at  birth  or  early  into  the  first  month  of  life.  Affected  children  exhibit  significant  neurological  developmental  delays  hypotonia,  resulting  in  short  stature.  Other  features  include  urogenital  anomalies  such  as  microgenitalism,  microcephaly,  depressed  nasal  bridge,  and  telecanthus.  It  is  inherited  as  an  X-linked  recessive  trait.