Skip to main content
NCBI home page
Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1996 Jul;33(7):618–620. doi: 10.1136/jmg.33.7.618

MURCS association: case report and review.

C Braun-Quentin 1, C Billes 1, B Böwing 1, D Kotzot 1
PMCID: PMC1050676  PMID: 8818954

Abstract

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 spectrum of associated anomalies, and the involvement of different organ systems closely related in early embryogenesis are arguments for considering MURCS association as the consequence of a developmental field defect.

Full text

PDF
618

Images in this article

618Image
on p.618
619Image
on p.619

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Boutroy J. L., Manini P., Girard M., Ribon M. Syndrome de Rokitansky-Kuster-Hauser atypique et dysmorphies turnériennes à caryotype normal (syndrome d'Ullrich-Noonan). A propos d'un cas d'association. J Gynecol Obstet Biol Reprod (Paris) 1978 May-Jun;7(4):831–835. [PubMed] [Google Scholar]
  2. Cohen M. M., Jr, Rollnick B. R., Kaye C. I. Oculoauriculovertebral spectrum: an updated critique. Cleft Palate J. 1989 Oct;26(4):276–286. [PubMed] [Google Scholar]
  3. Colavita N., Orazi C., Logroscino C., Dell'Acqua G., La Vecchia G. Does MURCS association represent an actual nonrandom complex of malformations? Diagn Imaging Clin Med. 1986;55(3):172–176. [PubMed] [Google Scholar]
  4. Duncan P. A., Shapiro L. R., Stangel J. J., Klein R. M., Addonizio J. C. The MURCS association: Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. J Pediatr. 1979 Sep;95(3):399–402. doi: 10.1016/s0022-3476(79)80514-4. [DOI] [PubMed] [Google Scholar]
  5. Esakowitz L., Yates J. R. Congenital corneal anaesthesia and the MURCS association: a case report. Br J Ophthalmol. 1988 Mar;72(3):236–238. doi: 10.1136/bjo.72.3.236. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. Greene R. A., Bloch M. J., Huff D. S., Iozzo R. V. MURCS association with additional congenital anomalies. Hum Pathol. 1986 Jan;17(1):88–91. doi: 10.1016/s0046-8177(86)80160-5. [DOI] [PubMed] [Google Scholar]
  7. Heidenreich W. Genitale und extragenitale Fehlbildungen beim Mayer-Rokitansky-Küster-Syndrom. Dtsch Med Wochenschr. 1988 Jul 8;113(27):1092–1096. doi: 10.1055/s-2008-1067773. [DOI] [PubMed] [Google Scholar]
  8. Lin H. J., Cornford M. E., Hu B., Rutgers J. K., Beall M. H., Lachman R. S. Occipital encephalocele and MURCS association: case report and review of central nervous system anomalies in MURCS patients. Am J Med Genet. 1996 Jan 2;61(1):59–62. doi: 10.1002/(SICI)1096-8628(19960102)61:1<59::AID-AJMG11>3.0.CO;2-V. [DOI] [PubMed] [Google Scholar]
  9. Lo Iudice G., Federico P., Pasquali D., Petrenga E., Schillirò F., D'Alessandro B. The MURCS association. Clinical, radiological, endocrinological and familial data in a 40-year old patient. Minerva Endocrinol. 1986 Jul-Sep;11(3):205–209. [PubMed] [Google Scholar]
  10. Mahajan P., Kher A., Khungar A., Bhat M., Sanklecha M., Bharucha B. A. MURCS association--a review of 7 cases. J Postgrad Med. 1992 Jul-Sep;38(3):109–111. [PubMed] [Google Scholar]
  11. Mendez J. P., Ulloa-Aguirre A., Sánchez F. J., Mutchinick O., Pérez-Palacios G. Endocrine evaluation in a patient with MURCS association and ovarian agenesis. Eur J Obstet Gynecol Reprod Biol. 1986 Jul;22(3):161–169. doi: 10.1016/0028-2243(86)90062-6. [DOI] [PubMed] [Google Scholar]
  12. Moore W. B., Matthews T. J., Rabinowitz R. Genitourinary anomalies associated with Klippel-Feil syndrome. J Bone Joint Surg Am. 1975 Apr;57(3):355–357. [PubMed] [Google Scholar]
  13. Orstavik K. H., Steen-Johnsen J., Foerster A., Fjeld T., Skullerud K., Lie S. O. VACTERL or MURCS association in a girl with neurenteric cyst and identical thoracic malformations in the father: a case of gonosomal mosaicism? Am J Med Genet. 1992 Aug 1;43(6):1035–1038. doi: 10.1002/ajmg.1320430625. [DOI] [PubMed] [Google Scholar]
  14. Pablo Méndez J., Orozco M., Iván Ruiz A., Orozco E., Díaz L. MURCS association and hypothalamic anovulation. Rev Invest Clin. 1992 Jan-Mar;44(1):115–121. [PubMed] [Google Scholar]
  15. Strübbe E. H., Cremers C. W., Willemsen W. N., Rolland R., Thijn C. J. The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome without and with associated features: two separate entities? Clin Dysmorphol. 1994 Jul;3(3):192–199. [PubMed] [Google Scholar]
  16. Strübbe E. H., Willemsen W. N., Lemmens J. A., Thijn C. J., Rolland R. Mayer-Rokitansky-Küster-Hauser syndrome: distinction between two forms based on excretory urographic, sonographic, and laparoscopic findings. AJR Am J Roentgenol. 1993 Feb;160(2):331–334. doi: 10.2214/ajr.160.2.8424345. [DOI] [PubMed] [Google Scholar]
  17. Vaidya V. U., Sidhva S. J., Bharucha B. A., Kagalwala T. Y., Kumta N. B. MURCS Association. Primary amenorrhea. Indian Pediatr. 1987 Jul;24(7):588–592. [PubMed] [Google Scholar]
  18. Wellesley D. G., Slaney S. F. MURCS in a male? J Med Genet. 1995 Apr;32(4):314–315. doi: 10.1136/jmg.32.4.314. [DOI] [PMC free article] [PubMed] [Google Scholar]
  19. Willemsen W. N. Combination of the Mayer-Rokitansky-Küster and Klippel-Feil syndrome--a case report and literature review. Eur J Obstet Gynecol Reprod Biol. 1982 Jun;13(4):229–235. doi: 10.1016/0028-2243(82)90104-6. [DOI] [PubMed] [Google Scholar]
  20. Willemsen W. N. Renal--skeletal--ear- and facial-anomalies in combination with the Mayer--Rokitansky--Küster (MRK) syndrome. Eur J Obstet Gynecol Reprod Biol. 1982 Nov;14(2):121–130. doi: 10.1016/0028-2243(82)90046-6. [DOI] [PubMed] [Google Scholar]
  21. Winer-Muram H. T., Muram D., Wilroy R. S., Cupp C. The concurrence of facioauriculovertebral spectrum and the Rokitansky syndrome. Am J Obstet Gynecol. 1984 Jul 1;149(5):569–570. doi: 10.1016/0002-9378(84)90037-1. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Medical Genetics are provided here courtesy of BMJ Publishing Group

RESOURCES