title: [A case associating an atypical Rokitansky-Kuster-Hauser syndrome, an Turner-like dysmorphia with normal karyotype (Ullrich-Nooman syndrome) (author's transl)].
abstract: 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.
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005187:Fallopian Tubes / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D009634:Noonan Syndrome / Q000150:complications* / Q000235:genetics; D013577:Syndrome; D014599:Uterus / Q000002:abnormalities*
vernacular_title: Syndrome de Rokitansky-Kuster-Hauser atypique et dysmorphies turnériennes à caryotype normal (syndrome d'Ullrich-Noonan). A propos d'un cas d'association.