Gupta A, Patton M A
Department of Medical Genetics, St. George's Hospital Medical School, London, United Kingdom.
Am J Med Genet. 1995 Nov 6;59(2):238-41. doi: 10.1002/ajmg.1320590223.
We describe a large family with congenital microtia, auditory meatal atresia and conductive deafness. The pedigree suggests autosomal dominant inheritance with variable expression and low penetrance. The literature is also reviewed to describe the inheritance pattern and clinical spectrum noted in this rare syndrome so far. The family is unique because the set of otologic anomalies in five generations was associated with renal cysts in one of the affected members, suggesting that this oto-renal (OR) syndrome may represent a variable expression of the branchio-oto-renal (BOR) syndrome. However, the probability is that this dominant malformation syndrome is a distinct entity.
我们描述了一个患有先天性小耳畸形、耳道闭锁和传导性耳聋的大家族。系谱显示为常染色体显性遗传，具有可变表达和低外显率。我们还回顾了文献，以描述迄今为止在这种罕见综合征中所观察到的遗传模式和临床谱。该家族具有独特性，因为五代人中的耳部异常与一名患病成员的肾囊肿有关，这表明这种耳肾（OR）综合征可能是鳃耳肾（BOR）综合征的一种可变表达。然而，这种显性畸形综合征很可能是一个独特的实体。
