MURCS association with additional congenital anomalies.
The postmortem findings in a patient with the MURCS association (müllerian duct aplasia/hypoplasia, renal agenesis or ectopy, and cervicothoracic somite dysplasia) are reported. This is the first autopsy study since the syndrome was recognized. The autopsy revealed abnormalities of the venous, pulmonary, and central nervous systems that had not been reported previously in patients with this syndrome. A review of the literature suggested that although the MURCS association usually occurs sporadically, as in this case, a familial association is occasionally present. In some cases the MURCS association may be a genetically determined pleiotropic condition.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000328:Adult; D002531:Cerebellum / Q000002:abnormalities; D002574:Cervical Vertebrae / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D016030:Kidney Transplantation; D008168:Lung / Q000002:abnormalities; D009095:Mullerian Ducts; D013909:Thorax / Q000002:abnormalities*; D014599:Uterus / Q000002:abnormalities; D014621:Vagina / Q000002:abnormalities; D014684:Venae Cavae / Q000002:abnormalities