Zohar Y, Grausbord R, Shabtai F, Talmi Y
Dept. of Otolaryngology and Jaw Surgery, Hasharon Hospital, Petah-Tiqva, Israel.
J Craniomaxillofac Surg. 1989 Nov;17(8):340-4. doi: 10.1016/s1010-5182(89)80102-7.
Five cases of dysplasia of the jaws in one family which has been under our observation since 1970 are reported. The disease appeared as a mixed display of jaw lesions, in some members as fibrous dysplasia and in others as cherubism. We were able to trace the disorder through an unbroken line of four generations, and thus to demonstrate autosomal dominant inheritance. Cytogenetic analysis performed on three members of this family revealed a significantly increased rate of chromosomal breakage.
报告了自1970年以来一直在我们观察下的一个家族中的5例颌骨发育异常病例。该病表现为颌骨病变的混合表现，在一些成员中为骨纤维发育不良，在另一些成员中为 cherubism（注： cherubism 可音译为“家族性颌骨多囊病” ，但中文医学文献中若没有更准确的意译名称，保留英文更合适）。我们能够追溯该疾病在四代人中的连续谱系，从而证明其常染色体显性遗传。对该家族的三名成员进行的细胞遗传学分析显示染色体断裂率显著增加。
