Oliveira C A, Pinheiro L C, Gomes M R
Department of Otolaryngology, Brasília University Medical School, Brazil.
Ann Otol Rhinol Laryngol. 1989 Oct;98(10):772-6. doi: 10.1177/000348948909801004.
Congenital malformations of the external and middle ear relatively frequent anomalies (one to five cases in 20,000 live births). They are part of genetic syndromes such as Treacher Collins and Goldenhar's syndromes, but most cases are isolated and sporadic. A few cases of familial incidence of isolated external and middle ear malformations with autosomal recessive, autosomal dominant, and sex-linked modes of transmission have been described. We report on two siblings with almost identical anomalies of the external and middle ear and no other congenital defects. Their father had similar malformations, but nobody else in his large sibship presented ear malformations. The defects were also absent in two previous generations. We discuss the possibility, not previously mentioned in the literature, that these congenital malformations could have appeared by spontaneous mutation in the father and transmitted themselves as an autosomal dominant trait to his children.
先天性外耳和中耳畸形是相对常见的异常情况（每20000例活产中有1至5例）。它们是诸如特雷彻·柯林斯综合征和戈尔登哈综合征等遗传综合征的一部分，但大多数病例是孤立且散发的。已经描述了少数几例孤立性外耳和中耳畸形的家族性发病情况，其遗传方式为常染色体隐性、常染色体显性和性连锁。我们报告了两名兄弟姐妹，他们的外耳和中耳几乎存在相同的异常，且无其他先天性缺陷。他们的父亲有类似的畸形，但在其庞大的亲属中没有其他人出现耳部畸形。在之前的两代人中也没有这些缺陷。我们讨论了一种文献中未曾提及的可能性，即这些先天性畸形可能是父亲发生自发突变后，作为常染色体显性性状遗传给了他的子女。
