Boutroy J L, Manini P, Girard M, Ribon M
J Gynecol Obstet Biol Reprod (Paris). 1978 May-Jun;7(4):831-5.
Full description of the case is given first: an atypical Rokitansky-Kuster-Hauser syndrome (with absence of both fallopian tubes) is associated with Turner-like dysmorphia (including a Klippel-Feil syndrome), karyotype being normal. The Turner-like dysmorphia of the reported case perfectly fits into a syndrome described by Nora in 1974; this Ullrich-Noonan syndrome helps simplifying the classification of Turner syndromes and related syndromes: transmission is autosomal dominant in most cases.
一种非典型的 Rokitansky-Kuster-Hauser 综合征（双侧输卵管缺如）与 Turner 样畸形（包括 Klippel-Feil 综合征）相关，核型正常。该报道病例的 Turner 样畸形完全符合 Nora 在 1974 年描述的一种综合征；这种 Ullrich-Noonan 综合征有助于简化 Turner 综合征及相关综合征的分类：在大多数情况下，其遗传方式为常染色体显性遗传。
