{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T23:41:35Z","timestamp":1782603695928,"version":"3.54.5"},"reference-count":22,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1996,7]]},"abstract":"<jats:p>We report on a 25 year old woman with aplasia of the M\u00fcllerian 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.<\/jats:p>","DOI":"10.1136\/jmg.33.7.618","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:37:21Z","timestamp":1226331441000},"page":"618-620","source":"Crossref","is-referenced-by-count":40,"title":["MURCS association: case report and review."],"prefix":"10.1136","volume":"33","author":[{"given":"C","family":"Braun-Quentin","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Billes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"B\u00f6wing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D","family":"Kotzot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1996,7,1]]},"reference":[{"key":"ref_1","first-page":"399","article-title":"The MURCS association: millerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia","volume":"95","author":"Duncan, P.A.; Shapiro, L.R.; Stangel, J.J.; Klein, R.M.; Addonizio, J.C.","year":"1979","unstructured":"Duncan PA, Shapiro LR, Stangel JJ, Klein RM, Addonizio JC. The MURCS association: millerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. J7 Pediatr 1979;95:399-402."},{"key":"ref_2","first-page":"831","article-title":"Syndrome de Rokitansky-Kuster-Hauser atypique et dysmorphies turneriennes a caryotype normal (syndrome d'UllrichNoonan)","volume":"7","author":"Boutroy, J.L.; Manini, P.; Girard, M.; Ribon, M.","year":"1978","unstructured":"Boutroy JL, Manini P, Girard M, Ribon M. Syndrome de Rokitansky-Kuster-Hauser atypique et dysmorphies turneriennes a caryotype normal (syndrome d'UllrichNoonan). Jf Gynecol Obstet Biol Reprod 1978;7:831-5.","journal-title":"Jf Gynecol Obstet Biol Reprod"},{"key":"ref_3","first-page":"172","article-title":"Does MURCS association represent an actual nonrandom complex of malformations?","volume":"55","author":"Colavita, N.; Orazi, C.; Logroscino, C.; Dell'Acqua, G.; La Vecchia, G.","year":"1986","unstructured":"Colavita N, Orazi C, Logroscino C, Dell'Acqua G, La Vecchia G. Does MURCS association represent an actual nonrandom complex of malformations? Diagn Imag Clin Med 1986;55:172-6.","journal-title":"Diagn Imag Clin Med"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1136\/bjo.72.3.236","article-title":"Congenital corneal anaesthesia and the MURCS association: a case report","volume":"72","author":"Esakowitz, L.; Yates, J.R.W.","year":"1988","unstructured":"Esakowitz L, Yates JRW. Congenital corneal anaesthesia and the MURCS association: a case report. BrJ Ophthal 1988;72:236-8.","journal-title":"BrJ Ophthal"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/S0046-8177(86)80160-5","article-title":"MURCS association with additional congenital anomalies","volume":"17","author":"Green, R.A.; Bloch, M.J.; Huff, D.S.; Iozzo, R.V.","year":"1986","unstructured":"Green RA, Bloch MJ, Huff DS, Iozzo RV. MURCS association with additional congenital anomalies. Hum Pathol 1986;17:88-91.","journal-title":"Hum Pathol"},{"key":"ref_6","first-page":"1092","article-title":"Genital und extra-genital Fehlbildungen beim Mayer-Rokitansky-Kuster Syndrom","volume":"173","author":"Heidenreich, W.","year":"1988","unstructured":"Heidenreich W. Genital und extra-genital Fehlbildungen beim Mayer-Rokitansky-Kuster Syndrom. Dtsch Med Wochenschr 1988;173:1092-6.","journal-title":"Dtsch Med Wochenschr"},{"key":"ref_7","first-page":"205","article-title":"The MURCS association. Clinical, radiological, endocrinological and familial data in a 40year old patient","volume":"11","author":"Iudice, L.G.; Federico, P.; Pasquali, D.; Petrenga, E.; Schilliro, F.; D'Alessandro, B.","year":"1986","unstructured":"Iudice LG, Federico P, Pasquali D, Petrenga E, Schilliro F, D'Alessandro B. The MURCS association. Clinical, radiological, endocrinological and familial data in a 40year old patient. Minerva Endocrinol 1986;11:205-9.","journal-title":"Minerva Endocrinol"},{"key":"ref_8","first-page":"59","article-title":"Occipital encephalocele and MURCS association: case report and review of central nervous system anomalies in MURCS patients","volume":"61","author":"Un, H.J.; Comford, M.E.; Hu, B.; Rutgers, J.K.L.; Beall, M.H.; Lachman, R.S.","year":"1995","unstructured":"Un HJ, Comford ME, Hu B, Rutgers JKL, Beall MH, Lachman RS. Occipital encephalocele and MURCS association: case report and review of central nervous system anomalies in MURCS patients. Am Jf Med Genet 1995;61:59-62.","journal-title":"Am Jf Med Genet"},{"key":"ref_9","first-page":"109","article-title":"MURCS association - a review of 7 cases","volume":"38","author":"an P, Mahaj; A, Kher; A, Khungar; M, Bhat; M, Sanklecha; BA, Bharucha","year":"1992","unstructured":"Mahaj an P, Kher A, Khungar A, Bhat M, Sanklecha M, Bharucha BA. MURCS association - a review of 7 cases. J Postgrad Med 1992;38:109-11.","journal-title":"J Postgrad Med"},{"key":"ref_10","first-page":"161","article-title":"Endocrine evaluation in a patient with MURCS association and ovarian agenesis. Eur J7 Obstet Gynecol Reprod Biol","volume":"22","year":"1986","unstructured":"Mendez PJ, Ulloa-Aguirre A, Sanchez FJ, Mutchinick 0, Perez-Palacios G. Endocrine evaluation in a patient with MURCS association and ovarian agenesis. Eur J7 Obstet Gynecol Reprod Biol 1986;22:161-9."},{"key":"ref_11","first-page":"115","article-title":"MURCS association and hypothalamic anovulation","volume":"44","author":"Mendez, P.J.; Orozco, M.; Ruiz, A.I.; Orozco, E.; Diaz, L.","year":"1992","unstructured":"Mendez PJ, Orozco M, Ruiz AI, Orozco E, Diaz L. MURCS association and hypothalamic anovulation. Rev Invest Clin 1992;44:115-21.","journal-title":"Rev Invest Clin"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1002\/ajmg.1320430625","article-title":"VACTERL or MURCS association in a girl with neurenteric cyst and identical thoracic malformations in the father: a case of gonosomal mosaicism?","volume":"43","author":"Orstavol, K.H.; Steen-Johnson, J.; Foerster, A.; Fjeld, T.; Skullerud, K.; Lie, S.O.","year":"1992","unstructured":"Orstavol KH, Steen-Johnson J, Foerster A, Fjeld T, Skullerud K, Lie SO. 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;43:1035-8.","journal-title":"Am J Med Genet"},{"key":"ref_13","first-page":"192","article-title":"The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome without and with associated feature: two separate entities?","volume":"3","author":"Strubbe, E.H.; Cremers, C.W.R.J.; Willemsen, W.N.P.; Rolland, R.; Thjin, C.J.P.","year":"1994","unstructured":"Strubbe EH, Cremers CWRJ, Willemsen WNP, Rolland R, Thjin CJP. The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome without and with associated feature: two separate entities? Clin Dysmorphol 1994;3:192-9.","journal-title":"Clin Dysmorphol"},{"key":"ref_14","first-page":"588","article-title":"MURCS association","volume":"24","author":"Vaidya, V.U.; Sidhva, S.J.; Bharucha, B.A.; Kagalwala, T.Y.; Kumta, N.B.","year":"1987","unstructured":"Vaidya VU, Sidhva SJ, Bharucha BA, Kagalwala TY, Kumta NB. MURCS association. Indian Pediatr 1987;24:588-92.","journal-title":"Indian Pediatr"},{"key":"ref_15","first-page":"229","article-title":"Combination of the Mayer-RokitanskyKuster and Klippel-Feil syndrome. Eur Jf Obstet Gynecol Reprod","volume":"13","author":"Willemsen, W.N.P.","year":"1982","unstructured":"Willemsen WNP. Combination of the Mayer-RokitanskyKuster and Klippel-Feil syndrome. Eur Jf Obstet Gynecol Reprod Biol 1982;13:229.","journal-title":"Biol"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/0028-2243(82)90046-6","article-title":"Renal-skeletal-ear and facial anomalies in combination with the Mayer Rokitansky Kuster syndrome","volume":"14","author":"Willemsen, W.N.P.","year":"1982","unstructured":"Willemsen WNP. Renal-skeletal-ear and facial anomalies in combination with the Mayer Rokitansky Kuster syndrome. Eur_J Obstet Gynecol Reprod Biol 1982;14:121-30.","journal-title":"Eur_J Obstet Gynecol Reprod Biol"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1016\/0002-9378(84)90037-1","article-title":"The Braun-Quentin, Billes, Bdwing, Kotzot concurrence of facioauriculovertebral spectrum and the Rokitansky syndrome","volume":"149","author":"Winer-Muram, H.T.; Muram, D.; Wilroy, R.S.; Cupp, C.","year":"1984","unstructured":"Winer-Muram HT, Muram D, Wilroy RS, Cupp C. The Braun-Quentin, Billes, Bdwing, Kotzot concurrence of facioauriculovertebral spectrum and the Rokitansky syndrome. Am Obstet Gynecol 1984;149: 569-70.","journal-title":"Am Obstet Gynecol"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"331","DOI":"10.2214\/ajr.160.2.8424345","article-title":"Mayer-Rokitansky-Kuster-Hauser syndrome: distinction between two forms based on excretory, urographic, sonographic, and laparoscopic findings","volume":"160","author":"Strubbe, E.H.; Willemsen, W.N.P.; Lemmens, J.A.M.; Thijn, C.J.P.; Rolland, R.","year":"1993","unstructured":"Strubbe EH, Willemsen WNP, Lemmens JAM, Thijn CJP, Rolland R. Mayer-Rokitansky-Kuster-Hauser syndrome: distinction between two forms based on excretory, urographic, sonographic, and laparoscopic findings. AJR 1993;160:331-4.","journal-title":"AJR"},{"key":"ref_19","first-page":"27686","article-title":"Oculoauriculovertebral spectrum: an update critique","volume":"26","author":"Cohen, M.M.; Rollnick, B.R.; Kaye, C.I.","year":"1989","unstructured":"Cohen MM, Rollnick BR, Kaye CI. Oculoauriculovertebral spectrum: an update critique. Cleft Palate 1989;26:27686.","journal-title":"Cleft Palate"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"355","DOI":"10.2106\/00004623-197557030-00013","article-title":"Genitourinary anomalies associated with Klippel-Feil syndrome","volume":"57","author":"Moore, W.B.; Matthews, T.J.; Rabinowitz, R.","year":"1975","unstructured":"Moore WB, Matthews TJ, Rabinowitz R. Genitourinary anomalies associated with Klippel-Feil syndrome. Bone joint Surg 1975;57:355-7.","journal-title":"Bone joint Surg"},{"key":"ref_21","author":"KVHumanembryologie, Hinrichsen","year":"1990","unstructured":"Hinrichsen KV, ed. Humanembryologie. Berlin: Springer Verlag, 1990."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1136\/jmg.32.4.314","article-title":"MURCS in a male?","volume":"32","author":"Wellesley, D.G.; Slaney, S.F.","year":"1995","unstructured":"Wellesley DG, Slaney SF. MURCS in a male? Med Genet 1995;32:314-15.","journal-title":"Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.33.7.618","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:16:58Z","timestamp":1759724218000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.33.7.618"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1996,7]]},"references-count":22,"journal-issue":{"issue":"7","published-online":{"date-parts":[[1996,7,1]]},"published-print":{"date-parts":[[1996,7]]}},"alternative-id":["10.1136\/jmg.33.7.618"],"URL":"https:\/\/doi.org\/10.1136\/jmg.33.7.618","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1996,7]]}}}