Spondyloepiphyseal dysplasia congenita

Fetal Pediatr Pathol. 2010;29(1):57-62. doi: 10.3109/15513810903266310.


We report a case of spondyloepiphyseal dysplasia congenita (SED congenita), diagnosed at autopsy of a term infant. Prenatal ultrasound at 20 weeks of gestation had shown shortening of all the fetal long bones, with bowing of the femora and humeri, clubfeet, and small thoracic cage. We discuss the diagnostic features of SED and the main differential diagnoses.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Diagnosis, Differential
  • Female
  • Humans
  • Osteochondrodysplasias / congenital*
  • Osteochondrodysplasias / pathology*
  • Pregnancy