Haspeslagh M, Fryns J P, van den Berghe H
Clin Genet. 1984 Oct;26(4):374-8. doi: 10.1111/j.1399-0004.1984.tb01074.x.
The familial occurrence of the Coffin-Siris syndrome, combining a typical facial appearance with hypoplastic or absent fifth finger- or toenails, is reported. The full expression of the syndrome was present in two sisters, and partial clinical manifestations were present in their mentally borderline father. The relevant literature is reviewed, and the relation and confusion with other mental retardation syndromes, mainly the Coffin-Lowry syndrome, is discussed.
本文报道了科芬-西里斯综合征的家族性发病情况，该综合征表现为典型面容并伴有第五指（趾）甲发育不全或缺失。该综合征的全部表现出现在两姐妹身上，其智力处于临界状态的父亲则有部分临床表现。文章回顾了相关文献，并讨论了该综合征与其他智力发育迟缓综合征，主要是科芬-洛里综合征之间的关系及混淆之处。
