title: Unusual association between cardiac, skeletal, urogenital and renal abnormalities.
abstract: 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.
authors.affiliation: Imperial College London, London, UK.
authors.forename: Maria
authors.initials: M
authors.lastname: Goryaeva
authors.affiliation: Imperial College London, London, UK.
authors.forename: Mark Christopher
authors.initials: MC
authors.lastname: Sykes
authors.affiliation: Imperial College London, London, UK.
authors.forename: Benjamin
authors.initials: B
authors.lastname: Lau
authors.affiliation: Imperial College London, London, UK.
authors.forename: Simon
authors.initials: S
authors.lastname: West
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D005260:Female; D054092:Foramen Ovale, Patent / Q000150:complications*; D006801:Humans; D007690:Polycystic Kidney Diseases / Q000150:complications*; D012272:Ribs / Q000002:abnormalities*; D012600:Scoliosis / Q000150:complications*; D016136:Spina Bifida Occulta / Q000150:complications*; D013904:Thoracic Vertebrae / Q000002:abnormalities; D014564:Urogenital Abnormalities / Q000150:complications*; D014599:Uterus / Q000002:abnormalities*