TY  - CHAP
M1  - Book, Section
TI  - Kearns-Sayre Syndrome
A1  - Bissonnette, Bruno
A1  - Luginbuehl, Igor
A1  - Engelhardt, Thomas
Y1  - 2019
N1  - 
T2  - Syndromes: Rapid Recognition and Perioperative Implications, 2e
AB  - Kearns-Sayre  Syndrome  (KSS)  is  a  mitochondrial  encephalomyopathy  characterized  by  progressive  external  ophthalmoplegia,  atypical  retinitis  pigmentosa,  retinal  discoloration,  and  cardiomyopathy  (most  often  heart  block).  The  most  significant  characteristic  is  the  presence  of  a  mono-  or  bilateral  ptosis.  The  eye  abnormalities  and  developmental  delays  are  often  observed  before  the  age  of  5  years  in  all  cases.  Other  features  include  myotonia,  short  stature,  deafness,  and  ataxia.  This  neuromuscular  mitochondrial  disorder  affects  males  and  females  in  equal  numbers  and  the  onset  is  typically  before  the  age  of  20  years.  However,  symptoms  may  also  appear  during  infancy  or  adulthood.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/18
UR  - accesspediatrics.mhmedical.com/content.aspx?aid=1164074993
ER  -