Chondrodystrophia Calcificans Congenita

Abstract

The roentgenologist in the daily practice of his specialty expects to encounter manifestations of disease that are familiar and well known. At times, however, without warning he is confronted by a rare and unusual problem; such an experience can provoke a thrill analogous to that of an explorer discovering new lands or of a student acquiring new and unexpected knowledge. The writer was recently startled in such a manner when he came upon a most bizarre roentgenogram of a newborn infant with extensive congenital anomalies. The exact diagnosis was not immediately apparent and paging through the standard textbooks available yielded a single brief but thorough description, under the designation Chondrodystrophia calcificans congenita. This appears in Dr. Bradley Coley's excellent book on Neoplasms of Bone (5). A review of the world literature was then instituted, revealing a meager total of 22 cases. It is entirely possible, however, that more examples may have been reported under different names, as references were discovered only in the American, British, and German publications, where a considerable confusion in nomenclature already exists. Besides the present name, which was given to the disease by Raap (14) in 1942, it has been called, also, hypoplastic fetal chondrodystrophy, dysplasia epiphysialis puncticularis or punctata, and in one instance was even described under the name of calcinosis universalis.2 Chondrodystrophia calcificans congenita belongs to the large and confusing group of bony and cartilaginous embryonic malformations comprising the chondrodystrophies, which has already been subdivided into many ill-defined secondary classifications, frequently merging imperceptibly into one another. It possesses, however, many characteristics not found in any other group, which make it easy to class the condition in its own special niche. Conradi (6) deserves the honor of being the first to discover and describe the disease, in 1914, and none of the subsequent observers have added materially to his description. In every instance, the disease has been discovered soon after birth, because of obvious deformities, or in the early months or years of life because the general health and growth appeared substandard. The diagnosis is made exclusively by roentgen studies and is based first and foremost upon the discovery of fine stippled, diffuse, dense calcifications in the regions of the epiphyses at any point of the skeleton. Fairbank (8, 9) describes the appearance as “suggestive of that produced by flicking paint from a brush to a clean surface.” The shadows are usually discrete and sharp, only a few millimeters in diameter, although there is a somewhat indefinite smudge of semicalcified amorphous material in the background. These calcifications are encountered anywhere in the skeleton where cartilage is normally found.