Fitch N, Kaback M
J Med Genet. 1978 Feb;15(1):30-4. doi: 10.1136/jmg.15.1.30.
A family is reported in which both the syndrome of Axenfeld and the eye malformations of the syndrome of Rieger occur, indicating that both may be expressions of the same gene. We also review the associated anomalies already reported, emphasise their high incidence, suggest that these are not accidental associations, and propose some possible explanations for the high incidence.
据报道,有一个家族中同时出现了阿克森费尔德综合征和里格尔综合征的眼部畸形,这表明两者可能是同一基因的不同表现形式。我们还回顾了已报道的相关异常情况,强调了它们的高发生率,认为这些并非偶然的关联,并对高发生率提出了一些可能的解释。