Osteogenesis imperfecta and campomelic dysplasia: Difficulties in prenatal diagnosis

R. C. Sanders, R. T. Greyson-Fleg, W. A. Hogge, K. J. Blakemore, K. D. McGowan, S. Isbister

Research output: Contribution to journalArticlepeer-review

Abstract

The classic features of osteogenesis imperfecta and campomelic dysplasia typically are so specific that these two forms of skeletal dysplasia are among the few that can be diagnosed in the second trimester of pregnancy. We report a series of seven examples of osteogenesis imperfecta and one example of campomelic dwarfism to illustrate the difficulty of differentiating these two disorders in utero. The prenatal sonographic findings in three of the osteogenesis imperfecta cases mimicked campomelic dwarfism, whereas the case of campomelic dwarfism was antenatally diagnosed as osteogenesis imperfecta.

Original languageEnglish (US)
Pages (from-to)691-700
Number of pages10
JournalJournal of Ultrasound in Medicine
Volume13
Issue number9
DOIs
StatePublished - 1994

ASJC Scopus subject areas

  • Radiological and Ultrasound Technology
  • Radiology Nuclear Medicine and imaging

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