{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T11:13:14Z","timestamp":1761822794963},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,8]],"date-time":"2005-06-08T00:00:00Z","timestamp":1118188800000},"content-version":"vor","delay-in-days":5394,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1990,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 4\u2010year\u2010old first\u2010born mono\u2010zygotic twin girl with a hypoplastic left face, mandible and zygoma, left microtia without an external auditory canal, a U\u2010shaped cleft palate, right ectopic\u2010fused kidneys, a blindly ending vaginal pouch, and absent uterus. We review 3 other cases with the manifestations of the Rokitansky and the facio\u2010auriculo\u2010vertebral sequence. The anomalies in these disorders can be thought of as deriving from an early defect or disruption in fetal mesoderm or its progenitor tissue at the time of primitive streak formation. They are frequently associated with other mesodermally derived defects or sequences and may together represent an extended polytopic field defect. While such speculation on how these spatially separated anomalies develop is probably simplistic, the concept of a mesodermal \u201cmalformation\u201d spectrum is helpful in reminding the clinician to look for other mesodermal defects when one mesodermally derived defect or sequence is detected.<\/jats:p>","DOI":"10.1002\/ajmg.1320370123","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:51:50Z","timestamp":1118548310000},"page":"100-102","source":"Crossref","is-referenced-by-count":29,"title":["Rokitansky sequence in association with the facio\u2010auriculo\u2010vertebral sequence: Part of a mesodermal malformation spectrum?"],"prefix":"10.1002","volume":"37","author":[{"given":"Eric A.","family":"Wulfsberg","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamara M.","family":"Grigbsy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,8]]},"reference":[{"key":"e_1_2_1_2_1","volume-title":"Embryology and Pathogenesis and Prenatal Diagnosis","author":"Duncan PA","year":"1977"},{"issue":"3","key":"e_1_2_1_2_2","first-page":"91","article-title":"National Foundation\u2010March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_3_1","first-page":"24A","article-title":"The VATER and MURCS associations: Vertebral and genitourinary malformations with distinct embryologic mechanisms","volume":"19","author":"Duncan PA","year":"1979","journal-title":"Teratology"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80514-4"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.17.1.57"},{"key":"e_1_2_1_6_1","first-page":"136","article-title":"Goldenhar's syndrome","volume":"132","author":"Feingold M","year":"1978","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_7_1","first-page":"584","volume-title":"Smith's Recognizable Patterns of Human Malformation","author":"Jones KL","year":"1988"},{"key":"e_1_2_1_8_1","first-page":"570","volume-title":"Smith's Recognizable Patterns of Human Malformation","author":"Jones KL","year":"1988"},{"key":"e_1_2_1_9_1","first-page":"575","volume-title":"Smith's Recognizable Patterns of Human Malformation","author":"Jones KL","year":"1988"},{"key":"e_1_2_1_10_1","first-page":"111","article-title":"Sindrome de regresi\u00f3n caudal: A prop\u00f3sito de cuatro casos","volume":"9","author":"Molinero FM","year":"1976","journal-title":"An Esp Pediatr"},{"key":"e_1_2_1_11_1","first-page":"45","volume-title":"The Developing Human: Clinically Oriented Embryology","author":"Moore KL","year":"1977"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(46)80241-5"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1288\/00005537-197610000-00003"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310510"},{"key":"e_1_2_1_15_1","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1542\/peds.67.2.176","article-title":"The axial mesodermal dysplasia spectrum","volume":"67","author":"Russell LJ","year":"1981","journal-title":"Pediatrics"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80261-8"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1986.02140170051027"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/0028-2243(82)90046-6"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9378(84)90037-1"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320370123","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320370123","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T02:50:10Z","timestamp":1698029410000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320370123"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,9]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1990,9]]}},"alternative-id":["10.1002\/ajmg.1320370123"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320370123","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,9]]}}}