{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,31]],"date-time":"2026-10-31T12:38:52Z","timestamp":1793450332943,"version":"4.5.0"},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,5,10]],"date-time":"2005-05-10T00:00:00Z","timestamp":1115683200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mayer\u2013Rokitansky\u2013K\u00fcster Hauser (MRKHA) is a malformation complex comprising absent vagina and absent or rudimentary uterus. The aim of our study was to describe the type and frequency of anomalies associated with the MRKHA. Between 1975 and 2002, 25 patients with a diagnosis of MRKHA were identified at the Mayo Clinic. These charts were reviewed retrospectively. Two of the 25 patients were found to have absence of one ovary and two patients had unilateral oophorectomies performed for benign cysts. Four patients had minor anomalies and two had digital anomalies. The frequency of scoliosis (20%), unilateral renal agenesis (28%), non\u2010vertebral skeletal anomalies (16%) and of the MURCS association (M\u00fcllerian agenesis, renal agenesis\/ectopia and cervical somite dysgenesis), 16%, was similar compared to that of other published studies. Vertebral abnormalities were found more frequently in our patients (44%). Four patients had cardiac defects, an anomaly not previously described, including truncus arteriosus, patent ductus arteriosus and patent foramen ovale, mitral valve prolapse, and mild mitral regurgitation. We document cardiac anomalies in 16% of our patients with MRKHA suggesting that a search for associated anomalies including cardiac defects is indicated in all such patients. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30721","type":"journal-article","created":{"date-parts":[[2005,5,10]],"date-time":"2005-05-10T20:16:46Z","timestamp":1115756206000},"page":"314-316","source":"Crossref","is-referenced-by-count":110,"title":["Mayer\u2013Rokitansky\u2013K\u00fcster\u2013Hauser anomaly and its associated malformations"],"prefix":"10.1002","volume":"135A","author":[{"given":"Siobh\u00e1n T.","family":"Pittock","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dusica","family":"Babovic\u2010Vuksanovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aida","family":"Lteif","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,5,10]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"831","article-title":"Syndrome de Rokitansky\u2010K\u00fcster\u2010Hauser atypique et dysmorphies turn\u00e9riennes a caryotype normal (syndrome d'Ullrich\u2010Noonan)","volume":"7","author":"Boutroy JL","year":"1978","journal-title":"J Gynecol Obstet Biol Reprod"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.7.618"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0007-1226(77)90003-0"},{"key":"e_1_2_5_5_1","first-page":"172","article-title":"Does MURCS association represent an actual nonrandom complex of malformations?","volume":"55","author":"Colavita N","year":"1986","journal-title":"Diagn Imag Clin Med"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/molehr\/2.3.145"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0015-0282(01)02836-9"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80514-4"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00007611-200093020-00022"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0046-8177(86)80160-5"},{"key":"e_1_2_5_11_1","first-page":"381","article-title":"Das Mayer\u2013Rokitansky\u2013K\u00fcster\u2013Syndrom. Uterus bipartitus solidus rudimentarius cum vagina solida","volume":"91","author":"Hauser GA","year":"1961","journal-title":"Schweiz Med Wochschr"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1067773"},{"key":"e_1_2_5_13_1","first-page":"205","article-title":"The MURCS association. Clinical, radiological, endocrinological and familial data in a 40\u2010year\u2010old patient","volume":"11","author":"Iudice LG","year":"1986","journal-title":"Minerva Endocrinol"},{"key":"e_1_2_5_14_1","first-page":"692","article-title":"Uterus bipartitus solidus rudimentarius cum vagina solida","volume":"67","author":"K\u00fcster H","year":"1910","journal-title":"Z Geburtshilfe Gyn\u00e4kol"},{"key":"e_1_2_5_15_1","first-page":"109","article-title":"MURCS association\u2014a review of 7 cases","volume":"38","author":"Mahajan P","year":"1992","journal-title":"J Postgrad Med"},{"key":"e_1_2_5_16_1","first-page":"525","article-title":"\u00dcber Verdoppelungen des Uterus und ihre Arten, nebst Bemerkungen \u00fcber Hasenscharte und Wolfsrachen","volume":"13","author":"Mayer CAJ","year":"1829","journal-title":"J Chir Augenheilkd"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/0028-2243(86)90062-6"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1067\/mob.2001.119075"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0015-0282(16)47121-9"},{"key":"e_1_2_5_20_1","first-page":"39","article-title":"\u00dcber die sogenennten Verdoppelungen des Uterus","volume":"26","author":"Rokitansky C","year":"1838","journal-title":"Med Jb \u00d6sterreich Staates"},{"key":"e_1_2_5_21_1","first-page":"192","article-title":"The Mayer\u2013Rokitansky\u2013K\u00fcster\u2013Hauser (MRKH) syndrome without and with associated features: Two separate entities?","volume":"3","author":"Strubbe EH","year":"1994","journal-title":"Clin Dysmorphol"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00356958"},{"key":"e_1_2_5_23_1","first-page":"588","article-title":"MURCS association","volume":"24","author":"Vaidya VU","year":"1987","journal-title":"Indian Pediatr"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/0028-2243(82)90104-6"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/0028-2243(82)90046-6"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(84)90037-1"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30721","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30721","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T18:56:18Z","timestamp":1697655378000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30721"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,5,10]]},"references-count":25,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,6,15]]}},"alternative-id":["10.1002\/ajmg.a.30721"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30721","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,5,10]]}}}