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[ Holt-Oram综合征:一例报告(作者译)]

[The Holt-Oram syndrome: report of a case (author's transl)].

作者信息

Picchio F M, Baccarani G, Bonvicini M, Magnani B

出版信息

G Ital Cardiol. 1976;6(8):1416-22.

PMID:1010253
Abstract

A case of the Holt-Oram syndrome is described, that is, the association of a skeletal anomaly of the superior limbs, with a constant involvment of the thumbs, and an ostium secundum defect with a prolonged P-R interval. The case presented has the peculiarity of being sporadic, while from the literature a familiarity is almost constant via an autosomic dominant hereditary transmission. The more common syndromes were an alteration of the superior limbs is associated with a congenital cardiopathy are schematically underlined. Finally, the embriological reasons of this not rare association are briefly discussed.

摘要

本文描述了一例 Holt-Oram 综合征病例,即上肢骨骼异常伴有拇指持续受累,以及继发孔缺损伴 P-R 间期延长。该病例的特点是散发性的,而从文献来看,几乎都是通过常染色体显性遗传传递。文中概括强调了上肢改变与先天性心脏病相关的更常见综合征。最后,简要讨论了这种并不罕见的关联的胚胎学原因。

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