title: Cleidocranial dysplasia. A family study.
abstract: The incidental observation of Wormian bones in the skull and defective ossification of the public symphysis in a mildly scoliotic 12-year-old girl prompted a clinical and radiological study of members of her family. The diagnosis of cleidocranial dysplasia (CCD) was established by observing similar skeletal abnormalities in eight out of ten of them but the classical clavicular defect in only one, the last to be examined. Abnormal modelling of the medial end of both clavicles was observed in all those affected. A modelling defect of the public bones is suggested as an additional, hitherto undescribed, radiological sign. The progression with age of certain radiological features of CCD is discussed. It is suggested that this family represents an atypical variant of CCD. Such variance may be more prevalent in patients with mild scoliosis than presently suspected. A complete skeletal survey with espeical attention to the skull, pelvis and medial aspect of the clavicle and family studies may be essential for the definitive diagnosis of CCD in certain patients.
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002968:Clavicle / Q000000981:diagnostic imaging; D002973:Cleidocranial Dysplasia / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010384:Pelvic Bones / Q000000981:diagnostic imaging; D011859:Radiography