Cleidocranial Dysostosis = Cleidocranial Dysostosis

다국어 초록 (Multilingual Abstract)

The etiology of this anomaly is unknown, however, chief features of this condition are anomalous developments of clavicles and cranial bones due to disturbance in ossification of membranous bones.
Many reporters have divided this anomaly into two types: those with a familial and hereditary history and those without. Probably more of the cases come under the head of those giving no familial or hereditary history. And anomalous development of one or both clavicles is the really characteristic defect. Therefore, Fitchet believed the term "hereditary cleidocranial dysostosis" should be discontinued and "congenital cleidal dysostosis" substituted instead.
Authors have observed 3 patients with typical anomalies of cleidocranial dysostosis occurring in one family. Regarding family history, eight members Ln four generations were known to have defects in the clavicles.
Case Ⅰ and Ⅱ: Daughters of case Ⅲ, aged 2 years and 9 months and 7 years each. Height, weight and mental development were considered normal for their age. The heads looked relatively large. X-ray examination of the skull, chest and pelvis revealed defects in the skull bones and clavicles, widening of the sutures and symphysis pubis. Situs inversus was noted in case Ⅰ.
Case Ⅲ: Thirty-seven-year old male, 157cm in height, had normal mentality. On physical examination, brachycephaly and upward angulation of the clavicles were seen. Bony defects in the central portion of the frontal bone, parietal bosses, delay in closure of the sutures, anomalous dentition, persistent metopic suture and partial defects in the clavicles were identified on skull and chest x-rays.