Thompson E, Pembrey M, Graham J M
J Med Genet. 1985 Oct;22(5):382-5. doi: 10.1136/jmg.22.5.382.
A mother and son are reported with chronic dacrocystitis, cup shaped ears, hearing loss, abnormal teeth, and poor formation of saliva and tears. They are similar to previously reported cases of lacrimo-auriculo-dento-digital (LADD) syndrome. The variability of expression of this autosomal dominant syndrome is discussed, and it is suggested that poor saliva and tear formation be added to the phenotype.
据报道,一对母子患有慢性泪囊炎、杯状耳、听力丧失、牙齿异常以及唾液和泪液分泌不良。他们与先前报道的泪腺-耳-牙-指(LADD)综合征病例相似。本文讨论了这种常染色体显性综合征表达的变异性,并建议将唾液和泪液分泌不良添加到该综合征的表型中。