Literature DB >> 27402585

Unusual association between cardiac, skeletal, urogenital and renal abnormalities.

Maria Goryaeva1, Mark Christopher Sykes1, Benjamin Lau1, Simon West1.   

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. 2016 BMJ Publishing Group Ltd.

Entities:  

Mesh:

Year:  2016        PMID: 27402585      PMCID: PMC4956977          DOI: 10.1136/bcr-2016-215281

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  16 in total

Review 1.  Polycystic kidney disease.

Authors:  Patricia D Wilson
Journal:  N Engl J Med       Date:  2004-01-08       Impact factor: 91.245

Review 2.  Reproductive outcomes in women with congenital uterine anomalies: a systematic review.

Authors:  Y Y Chan; K Jayaprakasan; A Tan; J G Thornton; A Coomarasamy; N J Raine-Fenning
Journal:  Ultrasound Obstet Gynecol       Date:  2011-10       Impact factor: 7.299

Review 3.  When and how to diagnose patent foramen ovale.

Authors:  F J Pinto
Journal:  Heart       Date:  2005-04       Impact factor: 5.994

4.  Association of renal agenesis and mullerian duct anomalies.

Authors:  S Li; A Qayyum; F V Coakley; H Hricak
Journal:  J Comput Assist Tomogr       Date:  2000 Nov-Dec       Impact factor: 1.826

5.  Mayer-Rokitansky-Küster-Hauser anomaly and its associated malformations.

Authors:  Siobhán T Pittock; Dusica Babovic-Vuksanovic; Aida Lteif
Journal:  Am J Med Genet A       Date:  2005-06-15       Impact factor: 2.802

6.  Prevalence of Müllerian duct anomalies detected at ultrasound.

Authors:  J Byrne; A Nussbaum-Blask; W S Taylor; A Rubin; M Hill; R O'Donnell; S Shulman
Journal:  Am J Med Genet       Date:  2000-09-04

Review 7.  Clinical implications of uterine malformations and hysteroscopic treatment results.

Authors:  G F Grimbizis; M Camus; B C Tarlatzis; J N Bontis; P Devroey
Journal:  Hum Reprod Update       Date:  2001 Mar-Apr       Impact factor: 15.610

8.  Comprehensive molecular diagnostics in autosomal dominant polycystic kidney disease.

Authors:  Sandro Rossetti; Mark B Consugar; Arlene B Chapman; Vicente E Torres; Lisa M Guay-Woodford; Jared J Grantham; William M Bennett; Catherine M Meyers; Denise L Walker; Kyongtae Bae; Qin Jean Zhang; Paul A Thompson; J Philip Miller; Peter C Harris
Journal:  J Am Soc Nephrol       Date:  2007-06-20       Impact factor: 10.121

9.  The MURCS association: Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia.

Authors:  P A Duncan; L R Shapiro; J J Stangel; R M Klein; J C Addonizio
Journal:  J Pediatr       Date:  1979-09       Impact factor: 4.406

Review 10.  Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome.

Authors:  Karine Morcel; Laure Camborieux; Daniel Guerrier
Journal:  Orphanet J Rare Dis       Date:  2007-03-14       Impact factor: 4.123

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.