具有显著自闭症特征的柯芬·西里斯综合征。

Aamir Jalal Al-Mosawi
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引用次数: 1

摘要

Coffin Siris综合征是一种罕见的遗传性畸形疾病,由Coffin和Siris于1970年首次发现。它与智力迟钝和明显粗糙的面部特征有关,包括宽鼻子,宽嘴巴,厚上下唇,厚眉毛和睫毛,多毛症/多毛症。稀疏的头皮毛发,特别是在颞区。Coffin Siris综合征在伊拉克只报道过一次。第一个患有Coffin Siris综合征的伊拉克患者(Al Mosawi AJ,2006)也是阿拉伯地区的第一个患者。以广泛性发育障碍或自闭症的形式出现的显著自闭症特征很少与Coffin Siris综合征相关。本报告的目的是报告最可能是第七例科芬Siris综合征相关的显著自闭症特征。该病例是伊拉克的第二例,也是世界上第170例。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Coffin Siris Syndrome with Significant Autistic Features.
Abstract Coffin Siris Syndrome is a rare genetic dysmorphic disorder that was first described by Coffin and Siris in 1970. It is associated with mental retardation and distinctive coarse facial features including wide nose, wide mouth with thick everted upper and lower lips, thick eyebrows and lashes, hirsutism/hypertrichosis. Sparse scalp hair particularly in the temporal areas. Coffin Siris syndrome has been reported only once in Iraq. The first Iraq patient with Coffin Siris syndrome (Al Mosawi AJ,2006) was also the first patient in the Arab. The occurrence of significant autistic features in form of pervasive developmental disorder or autism has been very infrequently reported in association with Coffin Siris syndrome. This aim to report which is most probably the seventh case of Coffin Siris Syndrome associated with significant autistic features. The case is the second case of this syndrome in Iraq which is also the case number 170 in the world.
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