TY  - CHAP
M1  - Book, Section
TI  - Juberg-Marsidi Syndrome
A1  - Bissonnette, Bruno
A1  - Luginbuehl, Igor
A1  - Engelhardt, Thomas
PY  - 2019
T2  - Syndromes: Rapid Recognition and Perioperative Implications, 2e
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.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/20
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1164074368
ER  -