AUTOSOMAL DOMINANT DUPLICATION OF THE RENAL COLLECTING SYSTEM, HEARING-LOSS, AND EXTERNAL EAR ANOMALIES - A NEW SYNDROME
AUTOSOMAL DOMINANT DUPLICATION OF THE RENAL COLLECTING SYSTEM, HEARING-LOSS, AND EXTERNAL EAR ANOMALIES - A NEW SYNDROME
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DOI：
10.1002/ajmg.1320140311
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发表时间：
1983-01-01
期刊：
影响因子：
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通讯作者：
SPROULE, J
中科院分区：
文献类型：
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作者：
FRASER, FC;AYME, S;SPROULE, J
两个家庭的先证者有严重的双侧感音神经性听力损失，耳前窝或标签，重复输尿管或双肾盂。其他亲属有1个或多个这些异常的模式，建议常染色体显性遗传，减少染色体畸变和可变的表达。术语鳃-耳-输尿管综合征建议指定这种情况。
Two families are reported in which propositi had severe bilateral sensorineural hearing loss, a preauricular pit or tag, and duplication of the ureters or bifid renal pelvices. Other relatives had 1 or more of these anomalies in a pattern suggesting autosomal dominant inheritance with reduced penetrance and variable expressivity. The term branchio-oto-ureteral syndrome is suggested to designate this condition.