Cleidocranial Dysostosis

Although scattered cases of cleidocranial dysostosis were reported early in the latter half of the nineteenth century, the condition was first established as a clinical and pathological entity in 1898 by Marie and Sainton (1). On the basis of their study of 4 cases, they stressed as cardinal features of the disease its hereditary transmission, hypoplasia of the clavicles, increase in the transverse diameter of the skull, and delay in ossification of the fontanelles. They gave the abnormality its name of “cleidocranial dysostosis.” In the following year Terry (2) described a female skeleton which, in addition to the pathognomonic changes in the skull and clavicles, showed faulty eruption of the teeth, scoliosis, and poorly ossified pubic and ischial bones. Incidence Soule (3) summarized the literature up to 1944, and the interested reader is referred to his complete bibliography. In 100 papers a total of 323 cases were reported from various parts of the world. Of these, 198 were on a hereditary basis and 125 were sporadic, a proportion of about 8 to 5 in favor of a familial tendency. Transmission occurred equally through the male and the female, and the cases were evenly distributed between the sexes. A study of the records of families in which this abnormality appeared suggests that it tends to outbreed itself. Once it disappears from a family, it is said never to recur. The cause is presumably a defect in the parental germ-plasm, a faulty anlage in the skeletal system for membranous bone in particular and especially the clavicle and the cranium. Clinical Features Patients with cleidocranial dysostosis are usually of small stature. The cranium is disproportionately large, with prominent frontal and parietal bosses. The face is small, the eyes widely spaced, and the nose depressed at the bridge. The chest may show flattening where the outer ends of the clavicles should be, and the shoulders, lacking the splinting effect of the clavicles, are unusually mobile and can be approximated or made to touch anteriorly. The deformity does not interfere with the patient's ability to do ordinary work nor does it affect his general health. The abnormality is usually discovered in the course of an examination for another condition. The deciduous teeth may be normal but in the permanent set faulty eruption, impaction, and other abnormalities may be the major source of complaint directly referable to this condition (Cases III and IV; Figs. 8–11, 15–16). Case Reports The 4 cases to be recorded here were seen during the summer of 1951 and constitute all the cases of this abnormality encountered by the writer in twenty-four years of general radiological practice. Case I: D. D., white female, was born prematurely of normal parents. She had developed normally but had always been underweight. At fifteen months she weighed 18 lb. She had a slight nutritional anemia (hemoglobin 60 per cent).