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单词 Atriodigital dysplasia
释义

Atriodigital dysplasia

中文百科

Holt-Oram症候群 Holt–Oram syndrome

(重定向自Atriodigital dysplasia)

Holt-Oram症候群是一种遗传病,其会导致与服用沙利窦迈的孕妇所诞下的婴儿有相似的异常,心脏及骨骼主为受影响,故又称为心手症候群

此遗传病未有发生率的推估。

遗传方面,其遗传方式为体染色体显性遗传,但经常为偶发的新突变,而且表现得有多样性。

英语百科

Holt–Oram syndrome Holt-Oram症候群

(重定向自Atriodigital dysplasia)
Holt-Oram syndrome has an autosomal dominant pattern of inheritance.

Holt–Oram syndrome is an autosomal dominant disorder that affects bones in the arms and hands (the upper limbs) and may also cause heart problems. The syndrome includes an absent radial bone in the arms, an atrial septal defect, and a first degree heart block. Holt–Oram syndrome is considered to be a phenocopy of thalidomide, since both the genetic disorder and the teratogenic effects have similar presentations in individuals.

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