RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164067820
T1 Desbuquois Syndrome
T2 Syndromes: Rapid Recognition and Perioperative Implications, 2e
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9781259861789
LK accesspediatrics.mhmedical.com/content.aspx?aid=1164067820
RD 2024/04/23
AB It  is  an  autosomal  recessive  osteochondrodysplastic  disease  with  typical  skeletal  anomalies  and  high  mortality  in  the  first  year  of  life.  It  is  part  of  a  group  of  disease  involved  with  multiple  dislocations  and  characterized  by  severe  prenatal  and  postnatal  growth  retardation  (dwarfism  <  5  SD),  joint  laxity,  very  short  extremities,  and  progressive  scoliosis.