RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164068464
T1 Dyggve-Melchior-Clausen 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=1164068464
RD 2024/04/25
AB It  is  a  rare,  progressive  genetic  disorder  characterized  by  abnormal  skeletal  spine-type  dwarfism  associated  with  microcephaly  and  intellectual  disability.  Other  clinical  features  include  barrel-shaped  chest  with  a  short  truck,  genu  valgum,  and  decreased  joint  mobility.  In  11%  of  patients,  there  is  atlantoaxial  instability  that  can  lead  to  spinal  cord  compression,  weakness  and  paralysis.