Images in Clinical Medicine

Chondrodysplasia Punctata

Marja W. Wessels, M.D., and Patrick J. Willems, M.D., Ph.D.

N Engl J Med 2002; 347:110July 11, 2002

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Figure 1 Chondrodysplasia punctata was diagnosed in a 22-week-old fetus. This heterogeneous condition involves genetic defects in peroxisomal, cholesterol, or vitamin K metabolism and acquired embryopathies caused by maternal malabsorption of vitamin K or maternal use of warfarin or hydantoin drugs. A radiograph of the fetus showed extensive punctiform calcification (stippling) of many bones, including the vertebrae; rib ends; iliac, ischial, and pubic bones; epiphyses of the long tubular bones; patellae; and carpal and tarsal bones. The stippling represents aberrant calcification of cartilage in the case of the rib ends, which normally remain cartilaginous throughout life, and premature calcification in the case of the other bones, which normally calcify at a later stage of development. The exact cause in this fetus was unclear, but the parents decided to terminate the pregnancy after receiving genetic counseling.

Marja W. Wessels, M.D.
University Hospital Rotterdam, 3015 GD Rotterdam, the Netherlands

Patrick J. Willems, M.D., Ph.D.
Synergene Belgium, 2800 Mechelen, Belgium