[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.

• Authors: J L Boutroy, P Manini, M Girard, M Ribon
• Journal: Journal de gynecologie, obstetrique et biologie de la reproduction (J Gynecol Obstet Biol Reprod (Paris)) Vol. 7 Issue 4 Pg. 831-5 ( 1978) ISSN: 0368-2315 [Print] France
• 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.
• PMID: 712046 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

• Adult
• Chromosome Aberrations
• Chromosome Disorders
• Fallopian Tubes (abnormalities)
• Female
• Genes, Dominant
• Humans
• Noonan Syndrome (complications, genetics)
• Syndrome
• Uterus (abnormalities)