Pseudodiastrophic dysplasia type Burgio in a newborn

Am J Med Genet. 1997 Aug 8;71(2):222-5. doi: 10.1002/(sici)1096-8628(19970808)71:2<222::aid-ajmg20>;2-f.


Pseudodiastrophic dysplasia is a distinct disorder that differs from diastrophic dysplasia on the basis of elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. We report on a new patient with this rare skeletal dysplasia and two previously undescribed major malformations: omphalocele and complex heart defect.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Diseases, Developmental / congenital*
  • Bone Diseases, Developmental / diagnostic imaging
  • Fatal Outcome
  • Female
  • Heart Defects, Congenital*
  • Hernia, Umbilical*
  • Humans
  • Infant, Newborn
  • Joint Dislocations
  • Radiography
  • Syndrome