无交叉现象与卡普尔-托列洛综合征：两种罕见病症。
Achiasma and Kapur-Toriello syndrome: Two rare entities.
作者信息
Justin Grant A, Earley Keith E, Peacock Justin G, Grant Aaron D
机构信息
Department of Ophthalmology, Brooke Army Medical Center, San Antonio, TX, USA.
Department of Surgery, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.
出版信息
Am J Ophthalmol Case Rep. 2019 Jun 5;15:100488. doi: 10.1016/j.ajoc.2019.100488. eCollection 2019 Sep.
PURPOSE
Describe a unique case of achiasma in a patient with Kapur-Toriello syndrome.
OBSERVATIONS
We provide a brief review of achiasma with common findings on examination and imaging studies, and a published classification system. In addition, consistent with the rare Kapur-Toriello syndrome, he had a right unilateral cleft lip and palate, neurologic abnormality in his achiasma, anal atresia, vesicoureteral reflux, hypospadias, and growth deficiency.
CONCLUSIONS
and Importance: Achiasma is an incredibly rare neurological deficit and we present the first case of achiasma in Kapur-Toriello syndrome.
目的
描述一例患有卡普尔 - 托里埃洛综合征患者的无交叉性视束异常的独特病例。
观察结果
我们简要回顾了无交叉性视束异常在体格检查和影像学研究中的常见表现，以及已发表的分类系统。此外，与罕见的卡普尔 - 托里埃洛综合征一致，他患有右侧单侧唇腭裂、无交叉性视束异常的神经学异常、肛门闭锁、膀胱输尿管反流、尿道下裂和生长发育迟缓。
结论及重要性
无交叉性视束异常是一种极其罕见的神经功能缺陷，我们报告了卡普尔 - 托里埃洛综合征中首例无交叉性视束异常病例。
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