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I型牙本质发育不全。一个六代家族的放射学和遗传学研究

Dentin dysplasia type I. Radiologic and genetic perspectives in a six-generation family.

作者信息

O Carroll M K, Duncan W K

机构信息

Department of Diagnostic Sciences, School of Dentistry, University of Mississippi Medical Center, Jackson.

出版信息

Oral Surg Oral Med Oral Pathol. 1994 Sep;78(3):375-81. doi: 10.1016/0030-4220(94)90071-x.

DOI:10.1016/0030-4220(94)90071-x
PMID:7970601
Abstract

This is a report of a kindred of at least 181 members, of whom 35 exhibit or are reported to have dentin dysplasia type I. Six others are suspected of having the condition. Radiographic evidence that included obliterated or semilunar pulp chambers and short or undeveloped roots confirmed the diagnosis in 18 persons. The autosomal dominant mode of inheritance has been confirmed. One hundred percent penetrance has been demonstrated. There were insufficient data to determine the degree of expressivity.

摘要

这是一份关于一个至少有181名成员的家族报告,其中35人表现出或被报告患有I型牙本质发育异常。另外6人被怀疑患有此病。包括髓腔闭塞或半月形以及牙根短或未发育的影像学证据在18人中证实了诊断。常染色体显性遗传模式已得到证实。已证明其外显率为100%。没有足够的数据来确定表现度。

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