Journal of Ultrasound in Medicine, Vol 13, Issue 9 691-700, Copyright © 1994 by American Institute of Ultrasound in Medicine
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 and S. Isbister
Ultrasound Institute of Baltimore, Brooklandville, Maryland 21022-1134.
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.
