MURCS in a male?
نویسندگان
چکیده
A man with Klippel-Feil deformity, unilateral renal agenesis, and azoospermia is presented as a possible case of MURCS.
منابع مشابه
Azoospermia in a Male with Klippel–Feil Anomaly
Müllerian-duct aplasia, renal agenesis, and cervical somite dysplasia (MURCS) is a rare genetic disorder. Previously thought to be exclusive in females, there have now been a small number of case reports describing a male analogue. We describe a patient with obstructive azoospermia and Klippel-Feil anomaly.
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We report on a 25 year old woman with aplasia of the Müllerian duct, unilateral renal agenesis, and anomalies of the cervicothoracic somites (MURCS association). Growth retardation and facial asymmetry were also present. A review of published reports allows MURCS association to be distinguished from related associations, sequences, and syndromes. Moreover, sporadic occurrence, the broad spectru...
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A combination of the congenital abnormalities, Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia, is defined as the MURCS association. Various genetic defects have been described in the MURCS association so far, yet the unambiguous molecular basis of these disorders has not been established. We report the case of an 18-year-old woman who presented with primary amenorrh...
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The MURCS association which stands for Mullerian, Renal, Cervicothoracic Somite Abnormalities is a rare developmental anomaly seen in females. The clinical course of this disorder is not clearly defined as of yet-which may range from asymptomatic to severe disability. Here we present the case of a young 22-year-old female who was incidentally detected to have a generalized increase in bone dens...
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The MURCS association is a rare, nonrandom association of müllerian duct aplasia, renal aplasia and cervicothoracic somite dysplasia. The etiology is unknown. Although it is usually a sporadic disorder, familial cases with uterovaginal anomalies have been reported. Occasionally, it may be accompanied by abnormalities involving various other organs or systems. Malformations related to the centra...
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عنوان ژورنال:
- Journal of medical genetics
دوره 32 4 شماره
صفحات -
تاریخ انتشار 1995