Journal of Ultrasound in Medicine, Vol 13, Issue 6 419-427, Copyright © 1994 by American Institute of Ultrasound in Medicine
Variable prenatal appearance of osteogenesis imperfecta
D. I. Bulas, H. J. Stern, K. N. Rosenbaum, J. A. Fonda, R. B. Glass and C. Tifft
Department of Diagnostic Imaging and Radiology, Children's National Medical Center, Washington, DC 20010.
Osteogenesis imperfecta is a heterogeneous group of disorders of type I
collagen with both lethal and nonlethal forms. Prenatal sonographic
findings in affected fetuses are variable and depend on the severity of the
disease. Six cases of osteogenesis imperfecta in which prenatal sonography
had been performed were reviewed. Two cases of lethal type II osteogenesis
imperfecta revealed short femurs at 16 to 17 weeks' gestation with
development of bowing and fractures by 19 weeks' gestation. Four fetuses
with the nonlethal type III or IV had femoral bowing with or without
shortening in the late second or third trimester with grossly normal
mineralization. Fractures in this latter group did not develop until 1 to
12 months after delivery. Understanding the progressive nature and
variability of osteogenesis imperfecta is crucial in the prenatal diagnosis
and management of this disease.
