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CASE REPORT
Unusual association between cardiac, skeletal, urogenital and renal abnormalities
  1. Maria Goryaeva,
  2. Mark Christopher Sykes,
  3. Benjamin Lau,
  4. Simon West
  1. Imperial College London, London, UK
  1. Correspondence to Maria Goryaeva, mg2411{at}imperial.ac.uk

Summary

We present a 33-year-old woman with an array of congenital abnormalities. She has been diagnosed with polycystic kidney disease (PCKD) with no detectable mutations in PKD1 or PKD2, spina bifida occulta, thoracic skeletal abnormalities, a uterus didelphys and a patent foramen ovale (PFO). There are several associations reported in the literature that include abnormalities similar to the patient's, but none describe her presentation in its entirety. The MURCS association is characterised by (MU)llerian duct aplasia, (R)enal dysplasia and (C)ervical (S)omite anomalies and goes some way in explaining these condition. Patients with both MURCS and PCKD have not been described in current literature. Through this report, we hope to bring a potential diagnosis to light and provide the patient with an improved understanding of her health.

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