Journal of Ultrasound in Medicine, Vol 18, Issue 10 715-718, Copyright © 1999 by American Institute of Ultrasound in Medicine
Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata
B. S. Hertzberg, M. A. Kliewer, M. Decker, C. R. Miller and J. D. Bowie
Department of Radiology, Duke University Medical Center, Durham, North Carolina 27710, USA.
Rhizomelic chondrodysplasia punctata is an autosomal recessive disorder
characterized by stippled epiphyses and rhizomelic shortening of the long
bones. Most fetuses with the disorder die in utero or shortly thereafter,
and the few that survive suffer severe debility and profound mental
retardation. Death ensues in the first decade of life. Relatively few
reports discuss antenatal ultrasonographic diagnosis of rhizomelic
chondrodysplasia punctata. We describe the prospective antenatal diagnosis
of rhizomelic chondrodysplasia punctata in a fetus with no family history
of the disorder, based on the sonographic findings of severe rhizomelic
limb shortening in combination with premature ossification and stippling of
multiple epiphyses. The ultrasonographic features and differential
diagnosis of rhizomelic chondrodysplasia punctata are elaborated.
