RT Book, Section
A1 Bissonnette, Bruno
A1 Luginbuehl, Igor
A1 Engelhardt, Thomas
SR Print(0)
ID 1164067945
T1 Diastrophic Dysplasia
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=1164067945
RD 2024/04/24
AB Autosomal  recessive  inherited  form  of  short-limb  dwarfism  associated  with  spine  anomalies.  It  is  characterized  by  an  unusual  clubfoot  with  twisting  of  the  metatarsals,  inward-  and  upward-turning  foot,  tarsus  varus,  and  adductly  inverted  appearances.  Other  clinical  features  include  a  scoliosis,  the  “hitchhiker  thumbs”  sign  and  in  50%  of  affected  individuals  a  cleft  palate.  Most  newborns  develop  cauliflower-like  ears  as  a  result  of  cystic  malformations  of  the  upper  part  of  the  ears.  Diastrophic  dysplasia  is  often  misdiagnosed  for  Atelosteogenesis  Type  2  (see  “Other  conditions  to  be  considered”);  however,  diastrophic  dysplasia  tends  to  be  less  severe.