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本病为遗传性疾病。主要临床表现为面瘫、耳聋和声哑等,患者常就诊于耳鼻喉科。作者们对四名患者的家族进行谱系调查,并对15岁以上的成员进行临床检查(包括耳鼻咽喉科检查、脑神经检查、纯音测听和放射性血管扫描图等),并采取血样作遗传标记检查,发现:(1)四个家族中发端者都是同一祖宗(生于1771年)的后裔;(2)属常染色体显性遗传(单等位基因);(3)四个家族295个成员中共发现本病患者23例,加上已死亡的3例共26例。26例中共有头颈部球瘤47个,尚有一患者发现一胸内球瘤。47个球瘤中26个发生在颈动脉体,17个在颈静脉球,9个在迷走神经球。13例肿瘤为多发性,即2个球瘤者6例,3个球瘤者6例,
The disease is a hereditary disease. The main clinical manifestations are facial paralysis, deafness, and hoarseness. Patients often attend the ENT department. The authors conducted a genealogical survey of the family of four patients and performed clinical examinations (including otorhinolaryngology, cranial nerve examinations, pure tone audiometry, and radioactive vascular scans) of members over the age of 15 and took blood samples for genetic labeling. The examination found: (1) The originators of the four families are descendants of the same ancestor (born 1771); (2) are autosomal dominant (single allele); (3) 295 of the four families The members of the Chinese Communist Party found 23 cases of this disease, plus 3 cases of 26 deaths. A total of 47 head and neck tumors were found in 26 cases, and one patient had found an intrathoracic tumor. Twenty-six of the 47 tumors occurred in the carotid body, 17 in the jugular bulb, and 9 in the vagal bulb. In 13 cases, there were multiple tumors, that is, 6 tumors in 2 tumors and 6 tumors in 3 tumors.