Harb Elise, Kran Barry
New England College of Optometry, Boston, Massachusetts, USA.
Optometry. 2005 Jul;76(7):352-62. doi: 10.1016/j.optm.2005.05.002.
In 1964, Pfeiffer described a three-generation family in which eight individuals had a syndrome consisting of craniosynostosis, broad thumbs and great toes, and partial syndactyly of the hands and feet. Pfeiffer syndrome affects males and females equally, and is most commonly a result of de novo mutations, but can be inherited in an autosomal dominant fashion. Pfeiffer syndrome is considered Type V of the five acrocephalosyndactly syndromes (ACS), a group of rare genetic diseases that involve premature closure of the cranial sutures. Cohen, in 1993, further described Pfeiffer syndrome and it's various expression patterns by creating three subgroups of the syndrome.
While Pfeiffer syndrome is clearly a rare disorder, affecting 15 of every 1 million births, there has been a series of publications reviewing the difficult differential diagnosis among Pfeiffer types and between the other acrocephalosyndactly syndromes. While these publications individually focus on a variety of specific systemic and ocular implications of the syndrome, together they encompass the scope of the syndrome. Since Pfeiffer syndrome mainly affects the craniofacial regions, the eye care professional plays an essential role in diagnosis and management. What follows are guidelines to aid in the diagnosis, ophthalmic and functional testing, and management of this disorder.
1964年，法伊弗描述了一个三代家族，其中8人患有一种综合征，包括颅缝早闭、拇指和大脚趾宽大以及手足部分并指（趾）。法伊弗综合征对男性和女性的影响相同，最常见的是新发突变的结果，但也可以常染色体显性方式遗传。法伊弗综合征被认为是五种尖头并指（趾）综合征（ACS）中的V型，这是一组罕见的遗传性疾病，涉及颅缝过早闭合。1993年，科恩通过创建该综合征的三个亚组，进一步描述了法伊弗综合征及其各种表现模式。
虽然法伊弗综合征显然是一种罕见疾病，每100万例出生中就有15例受影响，但已有一系列出版物回顾了法伊弗各类型之间以及与其他尖头并指（趾）综合征之间的鉴别诊断难题。虽然这些出版物分别关注该综合征的各种特定全身和眼部影响，但它们共同涵盖了该综合征的范围。由于法伊弗综合征主要影响颅面部区域，眼科护理专业人员在诊断和管理中起着至关重要的作用。以下是有助于该疾病诊断、眼科和功能测试以及管理的指南。
