MURCS and VACTERL association in a 27 year old female

Balusamy, S. L.; Kumar, Dandugula Pavan; Subrahmanian, Soundara Raghavan

doi:10.3109/01443610903191293

Cited by 5 publications

(2 citation statements)

References 5 publications

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“…The increase in reported twinning includes discordant monozygotic (MZ) twins, and when noted, genetic testing has uniformly been negative (Backhouse et al, 2019;Chen et al, 2018;Wieczorek et al, 2007). Further, there are individuals reported who have major features associated with two RCEM (Balusamy, Kumar, & Subrahamian, 2009;McKinlay Gardner, Umstad, & Hale, 2007).…”

mentioning

confidence: 99%

Recurrent constellations of embryonic malformations re‐conceptualized as an overlapping group of disorders with shared pathogenesis

Adam¹,

Curry

Hall

et al. 2020

American J of Med Genetics Pt A

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Several recurrent malformation associations affecting the development of the embryo have been described in which a genetic etiology has not been found, including LBWC, MURCS, OAVS, OEIS, POC, VACTERL, referred to here as "recurrent constellations of embryonic malformations" (RCEM). All are characterized by an excess of reported monozygotic discordant twins and lack of familial recurrence. We performed a comprehensive review of published twin data across all six phenotypes to allow a more robust assessment of the association with twinning and potential embryologic timing of a disruptive event. We recorded the type of twinning, any overlapping features of another RCEM, maternal characteristics, and the use of ART. Statistically significant associations included an excess of monozygotic twins and 80% discordance rate for the phenotype across all twins. There was an 18.5% rate of ART and no consistently reported maternal adverse events during pregnancy. We found 24 instances of co-occurrence of two RCEM, suggesting a shared pathogenesis across all RCEM phenotypes. We hypothesize the following timing for RCEM phenotypes from the earliest perturbation in development to the latest: LBWC, POC, OEIS, VACTERL, OAVS, then MURCS. The RCEM group of conditions should be considered a spectrum that could be studied as a group.

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mentioning

confidence: 99%

Recurrent constellations of embryonic malformations re‐conceptualized as an overlapping group of disorders with shared pathogenesis

Adam¹,

Curry

Hall

et al. 2020

American J of Med Genetics Pt A

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“…A MRKH pode ocorrer de forma isolada (tipo I) ou associada à malformação renal, vertebral e, em alguns casos, defeitos cardíacos ou auditivos 2,3 , configurando a MRKH tipo II ou associação de MURCS, com incidência de 1:50.000 meninas 4 . A ausência de dois terços proximais da vagina e ausência ou hipoplasia uterina ocorre em 96% dos casos, agenesia unilateral ou ectopia de um ou ambos os rins (88% dos casos); hidronefrose e rim em ferradura também podem ser encontrados.…”

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Forma atípica da síndrome de Mayer-Rokitansky-Kuster-Hauser com malformação renal e displasia cervicotorácica (associação de MURCS)

Borges¹,

Pires²,

Monteiro³

et al. 2012

Rev. Bras. Ginecol. Obstet.

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ResumoA forma atípica e mais severa da síndrome Mayer-Rokitansky-Kuster-Hauser (MRKH) ou MRKH tipo II é também conhecida como associação de MURCS, cujo mnemônico significa aplasia/hipoplasia mülleriana (MU), malformação renal (R) e displasia cervicotorácica (CS). Acomete pacientes do sexo feminino com cariótipo e função ovariana normais, acarretando amenorreia primária. Apresenta incidência de 1:50.000, subestimada pelo diagnóstico tardio e etiologia mal definida. Descrevemos um caso em criança e outro em adolescente, com o objetivo de predizer o diagnóstico ainda na infância, antes da instalação do quadro de amenorreia; as pacientes apresentavam em comum malformação renal, agenesia ou hipoplasia de derivados müllerianos e anomalias vertebrais, configurando o diagnóstico de MURCS. A relevância do estudo é mostrar a necessidade de prosseguir a investigação na presença de algum dos sinais da doença, pesquisando anormalidades correlatas, a fim de se estabelecer o diagnóstico precocemente e, consequentemente, orientar pacientes e seus familiares quanto à melhor forma de condução do caso, incluindo aconselhamento genético. AbstractThe atypical and more severe form of Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) or MRKH type II is also known as MURCS association, an acronym meaning aplasia/hypoplasia of Müllerian ducts (MU), congenital renal dysplasia (R) and cervico-thoracic dysplasia (CS). It affects female patients with normal karyotype and ovarian function, evolving to primary amenorrhea. It has an incidence of 1:50,000, but it is underestimated due to late diagnosis and undefined etiology. We describe the cases of a child and an adolescent in order to predict the diagnosis even in childhood, before the onset of amenorrhea. Patients had in common renal malformation, agenesis or hypoplasia of Müllerian derivatives and vertebral anomalies, establishing the diagnosis of MURCS. The relevance of this paper is to show the importance of further investigation when some of pathologic signs are present, researching correlated abnormalities in order to establish an early diagnosis and consequently to provide guidance to the patients and their families about the best way to conduct the case, including genetic counseling.

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Typical and Atypical Associated Findings in a Group of 346 Patients with Mayer-Rokitansky-Kuester-Hauser Syndrome

Rall

Eisenbeis

Henninger

et al. 2015

Journal of Pediatric and Adolescent Gynecology

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MURCS and VACTERL association in a 27 year old female

Cited by 5 publications

References 5 publications

Recurrent constellations of embryonic malformations re‐conceptualized as an overlapping group of disorders with shared pathogenesis

Recurrent constellations of embryonic malformations re‐conceptualized as an overlapping group of disorders with shared pathogenesis

Forma atípica da síndrome de Mayer-Rokitansky-Kuster-Hauser com malformação renal e displasia cervicotorácica (associação de MURCS)

Typical and Atypical Associated Findings in a Group of 346 Patients with Mayer-Rokitansky-Kuester-Hauser Syndrome

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