家族性先天性面横裂及外耳畸形的临床遗传学研究

Clinical genetics on congenital familial transverse facial cleft and deformity of external ear

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;

The 4 patients suffering from the transverse facial cleft with deformity ofexternal ear are analysised by the clinical genetics and the laboratory examination is also taken. The results are as follows:These cases are all the autosomal inheritance; the patients are almost male;there is some internal relationship between the transverse facial cleft and the deformity of external ear; the changes in dermatoglyph have the diagnosis significance for the deformity; the serum levels of Mg^(++) of the patients and their first order relative is a little lower; and the IgM is significantly lower than the normal.