{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,28]],"date-time":"2026-07-28T22:44:11Z","timestamp":1785278651086,"version":"3.55.0"},"reference-count":15,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2003,7,1]],"date-time":"2003-07-01T00:00:00Z","timestamp":1057017600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2003,7]]},"abstract":"<jats:p> Extreme variability of expression is characteristic of the facio-auriculo-vertebral sequence. Sporadic and familial cases have been reported with obvious etiologic heterogeneity. Most reports in the literature are of clinical cases. The purpose of this paper is to present a fetal autopsy case report of the facio-auriculo-vertebral sequence in association with DiGeorge sequence, Rokitansky sequence, and Dandy-Walker malformation. A standard neonatal autopsy was performed on a macerated female fetus, gestational age 29 wk. External examination of the fetus revealed hypoplastic right face, low-set microtic right ear, and macrostomia. Internal examination showed hypoplastic thymus and lungs, a type I truncus arteriosus, and ventricular septal defect. Both kidneys showed evidence of pelvi-ureteric junction obstruction. The ovaries and fallopian tubes were present with an absent uterus and vagina (Rokitansky sequence). In addition, Dandy-Walker malformation was identified. Microscopically, a single hypoplastic parathyroid gland was noted and there was cystic renal dysplasia. We report the sixth case of the facio-auriculo-vertebral sequence in association with Rokitansky sequence and the first case of this sequence in association with Dandy-Walker malformation. In addition, features of DiGeorge sequence were present. <\/jats:p>","DOI":"10.1007\/s10024-003-1124-z","type":"journal-article","created":{"date-parts":[[2003,12,2]],"date-time":"2003-12-02T21:39:20Z","timestamp":1070401160000},"page":"355-360","source":"Crossref","is-referenced-by-count":10,"title":["Facio-Auriculo-Vertebral Sequence in Association with DiGeorge Sequence, Rokitansky Sequence, and Dandy-Walker Malformation: Case Report"],"prefix":"10.1177","volume":"6","author":[{"given":"Komala","family":"Pillay","sequence":"first","affiliation":[{"name":"Division of Anatomical Pathology, Department of Pathology, University of Cape Town Medical School\/Groote Schuur Hospital, Anzio Road, Observatory, 7925, Cape Town, South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise S.","family":"Matthews","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Maternity Ultrasound, Groote Schuur Hospital, Cape Town, South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen C.","family":"Wainwright","sequence":"additional","affiliation":[{"name":"Division of Anatomical Pathology, Department of Pathology, University of Cape Town Medical School\/Groote Schuur Hospital, Anzio Road, Observatory, 7925, Cape Town, South Africa"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2003,7,1]]},"reference":[{"key":"bibr1-s10024-003-1124-z","first-page":"642","volume-title":"Smith's Recognizable Patterns of Human Malformation","author":"Jones KL","year":"1997"},{"key":"bibr2-s10024-003-1124-z","first-page":"243","volume":"1","author":"Goldenhar M.","year":"1952","journal-title":"J Genet Hum"},{"key":"bibr3-s10024-003-1124-z","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1093\/oso\/9780195118612.003.0019","volume-title":"Syndromes of the Head and Neck","author":"Gorlin RJ","year":"2001"},{"key":"bibr4-s10024-003-1124-z","first-page":"276","volume":"26","author":"Cohen MM","year":"1989","journal-title":"Cleft Palate J"},{"key":"bibr5-s10024-003-1124-z","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-001-0626-x"},{"key":"bibr6-s10024-003-1124-z","first-page":"575","volume":"80","author":"Genest DR","year":"1992","journal-title":"Obstet Gynecol"},{"key":"bibr7-s10024-003-1124-z","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370123"},{"key":"bibr8-s10024-003-1124-z","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440530"},{"key":"bibr9-s10024-003-1124-z","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450405"},{"key":"bibr10-s10024-003-1124-z","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520224"},{"key":"bibr11-s10024-003-1124-z","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.5.326"},{"key":"bibr12-s10024-003-1124-z","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1997.tb02551.x"},{"key":"bibr13-s10024-003-1124-z","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980707)78:3<282::AID-AJMG15>3.0.CO;2-B"},{"key":"bibr14-s10024-003-1124-z","first-page":"136","volume":"27","author":"Jones MC","year":"1990","journal-title":"Cleft Palate J"},{"key":"bibr15-s10024-003-1124-z","first-page":"325","volume":"20","author":"Greenberg F","year":"1986","journal-title":"Pediatr Res"}],"container-title":["Pediatric and Developmental Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1007\/s10024-003-1124-z","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1007\/s10024-003-1124-z","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,10]],"date-time":"2025-03-10T18:51:06Z","timestamp":1741632666000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1007\/s10024-003-1124-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,7]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2003,7]]}},"alternative-id":["10.1007\/s10024-003-1124-z"],"URL":"https:\/\/doi.org\/10.1007\/s10024-003-1124-z","relation":{},"ISSN":["1093-5266","1615-5742"],"issn-type":[{"value":"1093-5266","type":"print"},{"value":"1615-5742","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,7]]}}}