Sellars S, Beighton P
Clin Genet. 1983 May;23(5):376-9. doi: 10.1111/j.1399-0004.1983.tb00449.x.
Three siblings of Indian stock had profound bilateral conductive deafness with variable malformations of the external ears, stapedial abnormalities and facial paralysis. Their mother was similarly affected and inheritance of this private syndrome is evidently autosomal dominant. Some improvement of auditory function was obtained by surgical intervention in the middle ear.
三名印度血统的兄弟姐妹患有严重的双侧传导性耳聋,伴有外耳畸形、镫骨异常和面瘫,且程度不一。他们的母亲也有类似症状,这种罕见综合征显然是常染色体显性遗传。通过中耳手术干预,听觉功能有了一定改善。