母子に発現した鎖骨頭がい異骨症

Abstract

Cleidocranial dysostosis is an uncommon condition characterized by ossification disturbance of the clavicles and skull, oral and dental anomalies, together with hereditary characteristics. It is described in foreign countries where more than 600 cases have been presented, out of which a number of familial occurrences have been reported. However, relatively few familial cases have been reported in Japan.We report here an experience with cleidocranial dysostosis observed in mother and child. A 39-year-old woman visited this hospital complaining of an oppressive pain on the gingiva at the region of|23. An orthopantomogram showed 16 impacted teeth including 5 supernumerary teeth in the jaws. Further examinations revealed incomplete ossification of the cranial sutures, hypoplasia of facial bones, mandibular prognathism, high palatal vault, partial defect of the clavicles, and other findings. From the family history it was found that the second of two sons, a 10-year-old boy, had a delayed dentition of the permanent teeth. Radiographic and physical examinations of him disclosed open fontanel and incomplete ossification of the cranial sutures, delayed eruption of the permanent teeth, total defect of the right clavicle and partial defect of the left one, hypoplastic development of the pelvis, and some other findings.Additionally, discussions on clinical features with a reference to familial occurrences of this condition based on Japanese literature were made and the results are as follows:1) Therewas much variety of such characteristic findings as hypoplasia of the skull and clavicles and oral anomalies between the cases which suggested that many incomplete forms of this condition exist.2) 153 cases of cleidocranial dysostosis were reported in Japan, 50 (32. 7%) of which were cases observed in a parent and child were in 25 families. From considerations of existence of incomplete forms and occurrences in siblings, however, further investigations of the patient's family might disclose more familial occurrences.