Oculo-facio-cardio-dental syndrome in a girl and her mother.
Oculo-facio-cardio-dental syndrome in a girl and her mother.
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DOI：
10.4103/0971-6866.73416
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发表时间：
2010-09
期刊：
影响因子：
--
通讯作者：
Kumar GS
中科院分区：
文献类型：
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作者：
Rudrappa S;Kumar R;Kumar GS
已知先天性心脏缺陷与面部畸形和其他先天性异常有关。眼-面-心-牙（OFCD）综合征是一种罕见的多先天性异常综合征，遗传为X连锁显性疾病，其特征是先天性白内障、多个轻微面部畸形特征、先天性心脏缺陷和牙齿异常。这是不承认的许多医疗和牙科专业人员。到目前为止，只有21例报告。由于先天性白内障伴有心脏畸形，这种综合征常被误认为风疹胚胎病。通常是牙科医生根据牙科全景X光片上的典型发现诊断综合征。但我们怀疑我们的病人患有OFCD综合征基于典型的面部畸形，眼睛和心脏的缺陷，最后，它被证实后，注意到典型的牙科X线检查结果。
Congenital heart defects are known to be associated with facial dysmorphism and other congenital anomalies. Oculo-facio-cardio-dental (OFCD) syndrome is one such rare multiple congenital anomaly syndrome inherited as an X-linked dominant condition characterized by congenital cataracts, multiple minor facial dysmorphic features, congenital heart defects and dental anomalies. It is unrecognized by many medical and dental professionals. Only 21 cases have been reported so far. This syndrome is often misrecognized as rubella embryopathy because of association of congenital cataract with cardiac anomalies. It is usually the orthodontists who diagnose the syndrome based on typical findings on dental panoramic radiographs. But we suspected our patient to be having OFCD syndrome based on typical facial dysmorphism, ocular and cardiac defects, and finally it was confirmed after noticing typical dental radiographic findings.