{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T16:57:14Z","timestamp":1778777834365,"version":"3.51.4"},"reference-count":7,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1988,5]]},"abstract":"<jats:p>An 18 year old single Jewish woman with the Waardenburg syndrome and absence of a vagina and right sided adnexa uteri is reported. Other congenital malformations associated with the Waardenburg syndrome are mentioned and it is postulated that they may be the result of an altered invasion of neurones or altered neurones in certain organ systems early in embryogenesis.<\/jats:p>","DOI":"10.1136\/jmg.25.5.355","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:11:11Z","timestamp":1226329871000},"page":"355-357","source":"Crossref","is-referenced-by-count":7,"title":["Absence of a vagina and right sided adnexa uteri in the Waardenburg syndrome: a possible clue to the embryological defect."],"prefix":"10.1136","volume":"25","author":[{"given":"R M","family":"Goodman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Oelsner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Berkenstadt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Admon","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1988,5,1]]},"reference":[{"key":"ref_1","first-page":"393","article-title":"A survey of the Klein-Waardenburg syndrome in Israel with emphasis on upper extremity involvement. Evidence for further genetic heterogeneity-type III","author":"Goodman, R.M.; Lewithal, I.; Solomon, A.; Klein, D.","year":"1981","unstructured":"Goodman RM, Lewithal I, Solomon A, Klein D. A survey of the Klein-Waardenburg syndrome in Israel with emphasis on upper extremity involvement. Evidence for further genetic heterogeneity-type III. In: Huber A, Klein D, eds. Neurogenetics and neuro-ophthalmology. Amsterdam: Elsevier\/NorthHolland Biomedical Press, 1981:393-406."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1002\/ajmg.1320110407","article-title":"Upper limb involvement in the Klein Waardenburg syndrome","volume":"11","author":"Goodman, R.M.; Lewithal, I.; Solomon, A.; Klein, D.","year":"1982","unstructured":"Goodman RM, Lewithal I, Solomon A, Klein D. Upper limb involvement in the Klein Waardenburg syndrome. Am J Med Genet 1982;11:425-33.","journal-title":"Am J Med Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1136\/jmg.18.3.239","article-title":"Anal atresia and the Klein-Waardenburg syndrome","volume":"18","author":"Nutman, J.; Nissenkorn, I.; Varsana, I.; Mimouni, M.; Goodman, R.M.","year":"1981","unstructured":"Nutman J, Nissenkorn I, Varsana I, Mimouni M, Goodman RM. Anal atresia and the Klein-Waardenburg syndrome. J Med Genet 1981;18:239-41.","journal-title":"J Med Genet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1136\/jmg.23.2.175","article-title":"Possible Waardenburg syndrome with gastrointestinal anomalies","volume":"23","author":"Nutman, J.; Steinherz, R.; Sivan, Y.; Goodman, R.M.","year":"1986","unstructured":"Nutman J, Steinherz R, Sivan Y, Goodman RM. Possible Waardenburg syndrome with gastrointestinal anomalies. J Med Genet 1986;23:175-8.","journal-title":"J Med Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1056\/NEJM197303292881321","article-title":"Congenital deafness and Hirschsprung's disease","volume":"288","author":"McKusick, V.A.","year":"1973","unstructured":"McKusick VA. Congenital deafness and Hirschsprung's disease. N Engl J Med 1973;288:691.","journal-title":"N Engl J Med"},{"key":"ref_6","first-page":"336","article-title":"Albinisme partiel (leucisme) accompagne de surdimutite d'osteomyodysplasie, de raideurs articulaires congenital multiples et d'autres malformations congenitales","volume":"22","author":"Klein, D.","year":"1947","unstructured":"Klein D. Albinisme partiel (leucisme) accompagne de surdimutite d'osteomyodysplasie, de raideurs articulaires congenital multiples et d'autres malformations congenitales. Arch Klaus Stift Vererb Forsch 1947;22:336-42.","journal-title":"Arch Klaus Stift Vererb Forsch"},{"key":"ref_7","first-page":"79","article-title":"One hundred cases of congenital absence of the vagina","volume":"88","author":"Bryan, A.L.; Nigro, J.A.; Counseller, U.S.","year":"1949","unstructured":"Bryan AL, Nigro JA, Counseller US. One hundred cases of congenital absence of the vagina. Surg Gynecol Obstet 1949;88: 79-86.","journal-title":"Surg Gynecol Obstet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.25.5.355","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T16:56:16Z","timestamp":1760720176000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.25.5.355"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,5]]},"references-count":7,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1988,5,1]]},"published-print":{"date-parts":[[1988,5]]}},"alternative-id":["10.1136\/jmg.25.5.355"],"URL":"https:\/\/doi.org\/10.1136\/jmg.25.5.355","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1988,5]]}}}