肛門 閉塞을 동반한 鎖骨 頭蓋 異骨症 一例 = A Case of Cleidocranial Dysostosis(Mutational Dysostosis) Combine with Imperforated Anus

다국어 초록 (Multilingual Abstract)

Cleidocranial dysostosis is rare congenital syndrome which was originally described by Marie and Sainton in 1897. According to the classic discription, the syndrome consist in 1) Various degree of hypoplastic change of the clavicles 2) Delayed ossification of the cranial sutures and incresed width of the skull 3) Defects in the teeth, and 4) Hereditary characteristics. And these authors used the term Cleidocranial Dysostosis. But Rhinehart called attention to the mutational character of the disease and accordingly recommended that its name be changed to Mutational Dysostosis.
Subsequent to the discovery of cleidocranial dysostosis, new anomalies extending practically throughout the entire osseous system have been described.
We experienced a new case of Cleidocranial Dysostosis patient with absence of distal portion of both clavicles, unusual scapular and defect of ossification on the skull. Also this patient has high type of obstruction of imperforated anus. And we present this case based on clinical and radiological findings with review of some literatures.