Nieto Barrera M, Rufo Campos M, Tomás Pérez M, Fernández-Mensaque R C
An Esp Pediatr. 1976 Mar-Apr;9(2):141-9.
A typical case of familial blepharophimosis is reported. The genealogical tree is reviewed up to the third generation, finding a total of seven affected individuals, 40% of the studied patients. A nervous pattern in the E.N.G. of the facial nerve was found and its possible implication in the genesis of the facial features is discussed. In the genetic study, there was a normal cariotype, and in the genealogical tree a dominant autosomic transmission, without any evident difference in the transmission related to the primitively involved sex was observed.
报告了一例典型的家族性睑裂狭小症病例。绘制了三代的系谱图，共发现7名患病个体，占所研究患者的40%。发现面神经的ENG存在神经模式，并讨论了其在面部特征形成中的可能作用。在遗传学研究中，染色体核型正常，在系谱图中观察到显性常染色体遗传，在与最初受累性别相关的遗传传递上没有明显差异。
