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IV型埃勒斯-当洛综合征在一名儿童中表现类似非意外伤害。

Ehlers-Danlos syndrome type IV mimicking non-accidental injury in a child.

作者信息

Roberts D L, Pope F M, Nicholls A C, Narcisi P

出版信息

Br J Dermatol. 1984 Sep;111(3):341-5. doi: 10.1111/j.1365-2133.1984.tb04733.x.

Abstract

This case report describes a child in whom non-accidental injury was initially suspected, but who was later shown to have autosomal dominant Ehlers-Danlos syndrome (EDS) type IV. Her mother and brother were also type III collagen deficient. This syndrome may be commoner than the small number of reported cases suggested and may sometimes explain previously undiagnosed easy bruising. The importance of recognizing this syndrome is stressed as it may save a great deal of embarrassment, frustration and anger for the family wrongly suspected of causing injury to their child.

摘要

本病例报告描述了一名儿童,最初怀疑其遭受非意外伤害,但后来发现患有常染色体显性遗传性IV型埃勒斯-当洛综合征(EDS)。她的母亲和兄弟也存在III型胶原蛋白缺乏。该综合征可能比少数已报道病例所显示的更为常见,有时可能解释此前未被诊断出的易瘀伤情况。强调了识别该综合征的重要性,因为这可能为被错误怀疑对孩子造成伤害的家庭避免大量的尴尬、沮丧和愤怒。

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