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Mayer-Rokitansky-Küster-Hauser syndrome with 22q11.21 microduplication: a case report

21 Apr 2021

Abstract excerpt

BACKGROUND: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome (Online Mendelian Inheritance in Man [OMIM] #277000) is a congenital condition characterized by the total or partial agenesis of vagina and uterus. Agenesis can be isolated (MRKH 1) or associated with other renal, vertebral or cardiac defects (MRKH 2). CASE PRESENTATION: In this paper, we report a case of a Caucasian patient showing the clinical signs...

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PMID: 33883018
DOI: 10.1186/s13256-021-02716-6

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