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面横裂为宋儒耀氏唇腭裂分类的第Ⅳ类或Tessier(1973)的7号裂。面横裂常伴有外耳畸形,此病较少见,更罕见有家族性发生者。笔者近年曾收治4例此病患者,连同6例外耳畸形共计10例,均出自同一家族,呈典型的家族性发生。为探讨家族性先天性面横裂及外耳畸形的病因及病变规律、本文拟从临床遗传学角度,作如下四个方面的初步调查与分析。 1 临床资料分析 10例中,男6例,女4例。其中,面横裂者4例,单纯外耳附件增生者6例。面横裂患者中,有左侧面横裂伴左耳附件增生1例;右侧面横裂伴右侧外耳附件增生1例;右侧面横裂伴双侧外耳附件增生
Facial transverse rupture is classified as type IV of the Song and Yuan dynasties cleft lip and palate or Tessier (1973) cleft 7. Facial transverse rupture often accompanied by deformities of the outer ear, the disease is less common, more uncommon occurrence of familial. In recent years, I have treated 4 patients with this disease, together with 6 cases of auricular malformation total of 10 cases, all from the same family, was a typical familial occurrence. In order to investigate the etiology and pathological changes of familial congenital facial transverse rupture and external ear deformity, this article from the perspective of clinical genetics for the following four aspects of the initial investigation and analysis. A clinical data analysis of 10 cases, 6 males and 4 females. Among them, 4 cases of transverse rupture, simple appendage hyperplasia in 6 cases. Among the patients with transverse transverse dehiscence, there were 1 case of left-sided transverse rupture with left ear attachment hyperplasia, 1 case of right lateral transverse degeneration accompanied by right outer ear appendage hyperplasia, 1 case of right lateral transverse dehiscence accompanied with bilateral external ear attachment hyperplasia