额骨干骺端发育不良：症状及可能的遗传方式。

Frontometaphyseal dysplasia: symptoms and possible mode of inheritance.

作者信息

Jend-Rossmann I, Jend H H, Ringe J D, Gundlach K K

出版信息

J Oral Maxillofac Surg. 1984 Nov;42(11):743-8. doi: 10.1016/0278-2391(84)90425-7.

Abstract

Frontometaphyseal dysplasia is a rare syndrome of which only 20 cases have been described thus far. In this paper we report a 46-year-old man who showed a medium degree of manifestation of the disorder. The variable expressivity in both sexes, as derived from the careful study of reported symptoms in all known cases, was discussed. On the basis of the published pedigrees and additional information from our case, the possible mode of inheritance was debated.

摘要

额面干骺端发育异常是一种罕见综合征，迄今为止仅报道过20例。本文报告了一名46岁男性，其症状表现为该病症的中度症状。通过仔细研究所有已知病例报告的症状，探讨了该病症在男女两性中表现出的可变表达性。基于已发表的家系图谱以及我们病例的补充信息，对可能的遗传方式进行了讨论。