Literature DB >> 976708

[Rokitansky-Küstner syndrome (absent vagina, rudimentary uterus) associated with renal aplasia, phokomelia and Klippel-Feil anomaly (author's transl)].

H Kords.   

Abstract

A case of multiple malformations, absent vagina, rudimentary uterus (Rokitansky-Küstner syndrome), renal aplasia, fusion of the cervical vertebral bones (Klippel-Feil anomaly) and phokomelia is presented. Association of absent vagina and Klippel-Feil anomaly is variously reported, however in this case these anomalies are associated with phokomelia. Etiology of these malformations is discussed with the view to similarity to the Thalidomide syndrome.

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Year:  1976        PMID: 976708

Source DB:  PubMed          Journal:  Geburtshilfe Frauenheilkd        ISSN: 0016-5751            Impact factor:   2.915


  2 in total

1.  Autosomal recessive Klippel-Feil syndrome.

Authors:  E O Da Silva
Journal:  J Med Genet       Date:  1982-04       Impact factor: 6.318

2.  Evaluation of radiographic abnormalities of the hand in patients with the Mayer-Rokitansky-Küster-Hauser syndrome.

Authors:  E H Strübbe; C J Thijn; W N Willemsen; R Lappöhn
Journal:  Skeletal Radiol       Date:  1987       Impact factor: 2.199

  2 in total

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