Wey P D, Neidich J A, Hoffman L A, LaTrenta G S
Division of Plastic Surgery, UMDNJ-Robert Wood Johnson Medical School, New Brunswick.
Cleft Palate Craniofac J. 1994 Sep;31(5):397-400. doi: 10.1597/1545-1569_1994_031_0397_mdotos_2.3.co_2.
The orofaciodigital syndromes (OFDS) represent a spectrum of anomalies of the palate, cranium, hands, and feet. Váradi syndrome, designated OFDS type VI, is a rare disorder that is additionally characterized by cerebellar anomalies. The following report is of a patient with OFDS VI and characteristic multiple midline defects: median cleft lip and palate, lingual cleft with nodules, and midline brain malformation. In addition, this case is uniquely associated with the presence of midline (metopic and sagittal) craniosynostoses as well. It is unusual that deformities which result from premature fusion of cranial vault sutures would appear synchronously in a syndrome based on the concept of failure of fusion or coalescence of facial growth centers. The midline represents an independent developmental field, whereby CNS defects and midline anomalies can present concurrently.
口面指综合征（OFDS）表现为一系列涉及腭、颅骨、手和足的异常。瓦拉迪综合征，被指定为OFDS VI型，是一种罕见疾病，其特征还包括小脑异常。以下报告介绍了一名患有OFDS VI型且具有特征性多发中线缺陷的患者：正中唇腭裂、带结节的舌裂以及中线脑畸形。此外，该病例还独特地伴有中线（额缝和矢状缝）颅骨缝早闭。基于面部生长中心融合或合并失败的概念，颅骨穹窿缝过早融合导致的畸形会在一种综合征中同时出现，这是不寻常的。中线代表一个独立的发育区域，中枢神经系统缺陷和中线异常可同时出现。
