{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,11]],"date-time":"2026-03-11T13:47:49Z","timestamp":1773236869491,"version":"3.50.1"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4495,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a 4\u2010month\u2010old boy with manifestations of both the oculo\u2010auriculovertebral spectrum and the caudal regression sequence. He has preauricular appendages, thoracic and lumbar hemivertebrae, anomalies of the ribs, dextrocardia, sacral \u201cdysplasia\u201d, dislocated hips, bilateral talipes equinovarus, imperforate anus, recto\u2010vesical fistula, malformed scrotum, and undescended testes. As suggested by Russell et al. [1981], who reported a patient with similar anomalies, the spectrum of anomalies probably is due to a generalized alteration in mesodermal cell migration during the primitive streak period. The term \u201caxial mesodermal dysplasia spectrum\u201d best describes the widespread anomalies in the cranial and caudal regions. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320450405","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:27:53Z","timestamp":1118507273000},"page":"426-429","source":"Crossref","is-referenced-by-count":34,"title":["Axial mesodermal dysplasia spectrum"],"prefix":"10.1002","volume":"45","author":[{"given":"Fiona J.","family":"Stewart","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Norman C.","family":"Nevin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen","family":"Brown","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"issue":"3","key":"e_1_2_1_2_1","first-page":"91","article-title":"Embryologic pathogenesis of renal agenesis associated with cervical vertebral anomalies (Klippel\u2010Feil phenotype). 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Basic Embryology and Birth Defects","author":"Moore KL","year":"1977"},{"key":"e_1_2_1_10_1","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1542\/peds.67.2.176","article-title":"The axial mesoderm dysplasia spectrum","volume":"67","author":"Russell LJ","year":"1981","journal-title":"Pediatrics"},{"issue":"5","key":"e_1_2_1_11_1","first-page":"53","article-title":"Monozygotic twinning and the Duhamel Anomalad (imperforate anus to sirenomelia): A non\u2010random association between two aberrations in morphogenesis. March of Dimes","author":"Smith DWS","year":"1976","journal-title":"BD:OAS"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320450405","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320450405","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T04:57:41Z","timestamp":1698296261000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320450405"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,2,15]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1993,2,15]]}},"alternative-id":["10.1002\/ajmg.1320450405"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320450405","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,2,15]]}}}