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聋校学生中的瓦登伯革氏综合征与虹膜异色症

WAARDENBURG'S SYNDROME AND HETEROCHROMIA IRIDUM IN A DEAF SCHOOL POPULATION.

作者信息

PARTINGTON M W

出版信息

Can Med Assoc J. 1964 Apr 25;90(17):1008-17.

Abstract

Waardenburg's syndrome consists of lateral displacement of the inner canthi of the eyes (dystopia canthorum), a broad nasal root and confluent eyebrows, heterochromia iridum, a white forelock and congenital deafness. The syndrome is inherited as a dominant, but affected individuals do not necessarily have all of the characteristics cited.Five hundred and fourteen pupils at a school for the deaf were screened for features of this syndrome. Three cases were discovered. Eleven other deaf children were found to have heterochromia iridum and two more had white forelocks. The interocular dimensions of the remaining children were recorded as standards by which to judge the presence of dystopia canthorum. The results of chromosomal analysis in two cases with Waardenburg's syndrome were normal.The findings provide further evidence that Waardenburg's syndrome is a distinct entity and call in question Mackenzie's concept of a comprehensive "first arch syndrome".

摘要

瓦登伯格综合征的症状包括内眦向外移位(内眦异位)、宽鼻根和眉毛融合、虹膜异色、白色额发和先天性耳聋。该综合征以显性方式遗传,但受影响的个体不一定具有上述所有特征。一所聋人学校的514名学生接受了该综合征特征的筛查。发现了3例病例。另外11名失聪儿童被发现有虹膜异色,还有2名有白色额发。其余儿童的眼间距被记录下来作为判断内眦异位是否存在的标准。两例瓦登伯格综合征患者的染色体分析结果正常。这些发现进一步证明瓦登伯格综合征是一种独特的病症,并对麦肯齐关于综合性“第一鳃弓综合征”的概念提出了质疑。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8e8c/1922684/25cc8c096c34/canmedaj01045-0012-a.jpg

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