Schmid M, Schröder M, Langenbeck U
Am J Med Genet. 1985 Oct;22(2):327-32. doi: 10.1002/ajmg.1320220216.
We report on three sibs with right-sided microtia, meatal atresia, and conductive deafness. Two of the sibs also had right-sided palatoplegia. These sibs may have the autosomal-recessive form of microtia (No. 25180, McKusick [1983]), of which few familial cases are known to date. The malformation is due to a disturbance of the development of the first and second branchial arches. Review of the literature shows that microtia and meatal atresia with or without middle-ear involvement are developmental field defects which, either isolated or as a part of the facio-auriculo-vertebral spectrum, may occur (1) sporadically, (2) as component manifestation of syndromes, (3) as a multifactorial, or (4) as an apparent Mendelian trait.
我们报告了三例患有右侧小耳畸形、耳道闭锁和传导性耳聋的同胞。其中两名同胞还患有右侧腭裂。这些同胞可能患有常染色体隐性遗传形式的小耳畸形（编号25180，麦库西克[1983]），迄今为止已知的家族病例很少。这种畸形是由于第一和第二鳃弓发育紊乱所致。文献回顾表明，伴有或不伴有中耳受累的小耳畸形和耳道闭锁是发育性区域缺陷，它们可以单独出现，或作为面-耳-椎骨谱系的一部分出现，可能（1）散发性出现，（2）作为综合征的组成表现，（3）作为多因素导致的，或（4）作为明显的孟德尔性状出现。
