Histopathology of fetal diastrophic dysplasia

F. Qureshi, S. M. Jacques, S. F. Johnson, M. P. Johnson, R. F. Hume, M. I. Evans, S. S. Yang

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


We report on three cases of diastrophic dysplasia in second trimester fetuses and discuss the differential diagnosis and clinical, radiologic, and histopathologic findings. Manifestations of typical diastrophic dysplasia in infants and older patients include abnormal pinnae, scoliosis, and joint contractures; these were absent in the fetuses, in keeping with the tendency for the clinical and radiologic aspects of this disease to become more severe with age. The histopathologic characteristics of the cartilage appear to be similar in the fetus and older patient, and therefore may be useful in differentiating diastrophic dysplasia from other osteochondrodysplasias in the second trimester.

Original languageEnglish
Pages (from-to)300-303
Number of pages4
JournalAmerican Journal of Medical Genetics
Issue number3
StatePublished - 1995
Externally publishedYes


  • autosomal recessive inheritance
  • diastrophic dysplasia
  • osteochondrodysplasias


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