期刊
EUROPEAN JOURNAL OF MEDICAL GENETICS
卷 55, 期 8-9, 页码 441-445出版社
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2012.03.005
关键词
Kenny-Caffey syndrome; Sanjad-Sakati syndrome; Dental anomalies; Oligodontia; Microdontia; Enamel defects
Kenny-Caffey syndrome (KCS) is a rare osteosclerotic bone dysplasia characterized by hypocalcemia, short stature, ophthalmological features, and teeth anomalies. The TBCE gene coding for a tubulin-specific chaperone E, is located at chromosome 1q42-q43, and is responsible for the recessive form. After reviewing the literature, we found around 60 cases, however with limited dental data. In this article 5 new individuals with KCS, are described focusing on oral findings. All cases had short roots and showed dental anomalies as hypo/oligodontia, microdontia. Dental anomalies are a constant feature in KCS, further study is required to better delineate the syndrome. (c) 2012 Elsevier Masson SAS. All rights reserved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据