TY  - CHAP
M1  - Book, Section
TI  - Diastrophic Dysplasia
A1  - Bissonnette, Bruno
A1  - Luginbuehl, Igor
A1  - Engelhardt, Thomas
PY  - 2019
T2  - Syndromes: Rapid Recognition and Perioperative Implications, 2e
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.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/16
UR  - accessanesthesiology.mhmedical.com/content.aspx?aid=1164067945
ER  -