Orstavik K H, Medbø S, Mair I W
Department of Medical Genetics, Ullevål Hospital, Oslo, Norway.
Clin Genet. 1990 Aug;38(2):117-20. doi: 10.1111/j.1399-0004.1990.tb03558.x.
Familial cases of microtia and meatal atresia are rare, and both dominant and recessive inheritance have been suggested. We here report a family with right-sided external ear malformations and conductive hearing loss in a grandfather, his daughter and granddaughter. The grandfather and the granddaughter both had microtia and meatal atresia, whereas the daughter had a normal outer ear except for a narrow meatus and auricular appendages. The pedigree suggests autosomal dominant inheritance with variable expressivity.
小耳畸形和耳道闭锁的家族性病例较为罕见，有人提出其遗传方式为显性和隐性遗传。我们在此报告一个家族，该家族中的祖父、其女儿和孙女均患有右侧外耳畸形及传导性听力损失。祖父和孙女都患有小耳畸形和耳道闭锁，而女儿除耳道狭窄和耳廓附件外，外耳正常。该系谱表明其遗传方式为具有可变表达性的常染色体显性遗传。
