TY  - CHAP
M1  - Book, Section
TI  - Dionisi Vici Sabetta Gambarara Syndrome
A1  - Bissonnette, Bruno
A1  - Luginbuehl, Igor
A1  - Engelhardt, Thomas
PY  - 2019
T2  - Syndromes: Rapid Recognition and Perioperative Implications, 2e
AB  - It  is  a  rare  congenital  multisystem  disorder  characterized  by  the  presence  of  agenesis  of  the  corpus  callosum,  severe  developmental  delay,  immunodeficiency,  cleft  lip/palate,  cataract,  hypopigmentation,  and  progressive  cardiomyopathy.  Affected  individuals  also  have  profound  psychomotor  retardation  and  hypotonia  due  to  a  myopathy.  Vici  Syndrome  is  the  most  typical  example  of  a  novel  group  of  inherited  neurometabolic  conditions  classified  as  congenital  disorders  of  autophagy.  Life  expectancy  is  markedly  reduced  and  usually  death  occurs  before  the  age  of  3  years  due  to  cardiac  failure  or  severe  infection.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - accessanesthesiology.mhmedical.com/content.aspx?aid=1164068121
ER  -