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Forma atípica da síndrome de Mayer-Rokitansky-Kuster-Hauser com malforma??o renal e displasia cervicotorácica (associa??o de MURCS)

DOI: 10.1590/S0100-72032012000300008

Keywords: uterus [abnormalities], vagina [abnormalities], kidney [abnormalities], chromosome aberrations, abnormalities, multiple [genetics], amenorrhea, mullerian ducts [abnormalities], case reports.

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Abstract:

the 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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