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首页> 外文期刊>Balkan journal of medical genetics: BJMG >THE MANY FACES OF ORAL-FACIAL-DIGITAL SYNDROME
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THE MANY FACES OF ORAL-FACIAL-DIGITAL SYNDROME

机译:口腔-数字-数字综合症的许多方面

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摘要

The oral-facial-digital (OFD) syndrome is a heterogeneous group of abnormalities that share anomalies of the oral cavity, face and digits of hands and feet. On the basis of other anomalies of brain, kidneys, limbs, eyes and other organs, at least 13 subgroups have been described. We here describe four unrelated patients with this syndrome, who have the typical facial, oral and digital anomalies and also anomalies of other organs and systems. Facial features, digital malformations, as well as the existence of additional malformations all of which can be classified into different subgroups. The report points out the difficulty in delineation of the subtypes of OFD syndrome because of the overlapping features between OFD subgroups.
机译:口腔面部数字综合症(OFD)综合征是一组异质性异常,它们共享口腔,面部和手脚趾的异常。基于脑,肾,四肢,眼睛和其他器官的其他异常,已描述了至少13个亚组。我们在这里描述了四名与此患者无关的患者,他们具有典型的面部,口腔和指骨异常,以及其他器官和系统的异常。面部特征,数字畸形以及其他畸形的存在都可以归为不同的亚组。报告指出,由于OFD子群之间的重叠特征,难以描述OFD综合征的亚型。

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