Abstract：
BACKGROUND: Oro-facial digital(OFD) syndrome is a rare anomaly which is often missed out as just cleft lip and palate.It is an X-linked dominant condition with lethality in males. It however results from the pleotropic effect of a morphogenetic impairment affecting almost invariably the mouth, face and digits and it also includes lower IQ and mental retardation. 14 different variations of these syndrome can be seen with the majority of cases of type 1 and 2 based on characteristic clinical manifestations.
METHODS: Present case report describes a 9 year old girl patient who was mis-diagnosed with partial cleft palate and was later diagnosed as orofacial digital syndrome based on the clinical and oral features.
CONCLUSIONS: Not much literature is present regarding this topic and with no relevent family history makes this case a one in a million case of OFD. Therefore, this case report is a complete insight on Oro-facial digital syndrome.
METHODS: Present case report describes a 9 year old girl patient who was mis-diagnosed with partial cleft palate and was later diagnosed as orofacial digital syndrome based on the clinical and oral features.
CONCLUSIONS: Not much literature is present regarding this topic and with no relevent family history makes this case a one in a million case of OFD. Therefore, this case report is a complete insight on Oro-facial digital syndrome.
摘要：
背景：面部数字（OFD）综合征是一种罕见的异常，通常被遗漏为唇腭裂。这是一种X连锁的显性条件，在男性中具有致死性。然而，它是由几乎总是影响口腔的形态发生障碍的多向效应引起的，面部和手指，还包括智商较低和智力低下。根据特征性的临床表现，可以看到这些综合征的14种不同的变化，大多数病例为1型和2型。
方法：本病例报告描述了一名9岁女孩患者，根据临床和口腔特征，误诊为部分腭裂，后来被诊断为口面部数字综合征。
结论：关于这个主题的文献不多，而且没有相关的家族史，使得这个病例成为百万分之一的OFD病例。因此,本病例报告是关于面部数字综合征的完整见解。
方法：本病例报告描述了一名9岁女孩患者，根据临床和口腔特征，误诊为部分腭裂，后来被诊断为口面部数字综合征。
结论：关于这个主题的文献不多，而且没有相关的家族史，使得这个病例成为百万分之一的OFD病例。因此,本病例报告是关于面部数字综合征的完整见解。
