Oculo-facio-cardio-dental syndrome in a mother and daughter
Oculo-facio-cardio-dental syndrome in a mother and daughter
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DOI：
10.1016/j.ijom.2006.05.001
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发表时间：
2006-11-01
影响因子：
2.4
通讯作者：
Reardon, W.
中科院分区：
文献类型：
--
作者：
McGovern, E.;AL-Mudaffer, M.;Reardon, W.
眼面心齿 (OFCD) 综合征是一种罕见的 X 连锁显性综合征，其特征是犬牙根部过大（牙根肥大）、先天性白内障、面部特征畸形和先天性心脏病。报告一例 OFCD 母女垂直传播病例。牙科检查结果对于确认母亲的诊断非常重要。
Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked dominant syndrome characterized by canine teeth with extremely large roots (radiculomegaly), congenital cataract, dysmorphic facial features and congenital heart disease. A case of mother-daughter vertical transmission of OFCD is reported. Dental findings were important in confirming the diagnosis in the mother.