Pfeiffer R A, Diekmann L, Stock H J
Institut für Humangenetik der Friedrich-Alexander Universität Erlangen-Nürnberg.
Ann Genet. 1988;31(4):241-3.
Aplasia of the thumbs and great toes, and aplasia of terminal and dysplasia of middle phalanges with absence of nails were noted in the child of related parents, who died at the age of 3 months from cardiorespiratory insufficiency. This is the 7th case of an (AR) genetic syndrome called after Yunis and Varon.
在近亲结婚的父母所生的患儿中,发现有拇指和大脚趾发育不全,以及末节指骨发育不全和中节指骨发育异常且无指甲的情况,该患儿于3个月大时死于心肺功能不全。这是第7例以尤尼斯和瓦伦命名的(常染色体隐性)遗传综合征病例。