{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T11:44:45Z","timestamp":1790250285771,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":9649,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1979,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This paper describes six Hutterite children form five families who appear to have been affected by the same syndrome that was described in two brothers by Bowen and Conradi [1]. Our additional cases confirm that the major features of the syndrome include proportionate intrauterine growth retardation, microcephaly, micrognathia, a prominent nose, rocker\u2010bottom feet, joint limitation, and failure to thrive, with death within the first year of life. Bowen\u2010Conradi syndrome is an autosomal recessive trait and pedigree records show that all six families now known are related to each other through two couples born in the late 1700s but that there are additional earlier possible sources of the responsible gene. The differential diagnosis of this syndrome is discussed.<\/jats:p>","DOI":"10.1002\/ajmg.1320030305","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:41:04Z","timestamp":1118536864000},"page":"269-279","source":"Crossref","is-referenced-by-count":30,"title":["The Bowen\u2010Conradi syndrome\u2014a highly lethal autosomal recessive syndrome of microcephaly, micrognathia, low birth weight, and joint deformities"],"prefix":"10.1002","volume":"3","author":[{"given":"Alasdair G. W.","family":"Hunter","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah J.","family":"Woerner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucy D. C.","family":"Montalvo\u2010Hicks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. Beatrice","family":"Fowlow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert H. A.","family":"Haslam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter J.","family":"Metcalf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Brian","family":"Lowry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Optiz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_2","volume-title":"Growth Problems and Clinical Advances","author":"Bowen P"},{"issue":"6","key":"e_1_2_1_2_3","first-page":"101","article-title":"Liss for The National Foundation\u2013March of Dimes","year":"1976","journal-title":"BD:OAS"},{"key":"e_1_2_1_3_2","doi-asserted-by":"crossref","unstructured":"BurksJL SingfordS:3:233\u2013235 1964.","DOI":"10.1177\/000992286400300409"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.5.3.227"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(65)80198-6"},{"key":"e_1_2_1_6_2","first-page":"107","article-title":"Developmental anomaly resembling the trisomy 18 syndrome","volume":"12","author":"Simpson JL","year":"1969","journal-title":"Ann Genet"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1965.03090100086037"},{"key":"e_1_2_1_8_2","volume-title":"Cytogenetics, Environment and Malformation syndromes","author":"Pena SDJ"},{"issue":"5","key":"e_1_2_1_8_3","first-page":"201","year":"1976","journal-title":"BD:OAS"},{"key":"e_1_2_1_9_2","volume-title":"Recent Advances and New Syndromes","author":"Elias S"},{"issue":"6","key":"e_1_2_1_9_3","first-page":"243","year":"1978","journal-title":"BD: OAS"},{"key":"e_1_2_1_10_2","first-page":"253","article-title":"Autosomal recessive cerebro\u2010oculo\u2010facio\u2010skeletal (COFS) syndrome","volume":"5","author":"Pena SDJ","year":"1974","journal-title":"Clin Genet"},{"key":"e_1_2_1_11_2","volume-title":"Recent Advances and New Syndromes","author":"Pena SDJ"},{"issue":"6","key":"e_1_2_1_11_3","first-page":"205","year":"1978","journal-title":"BD: OAS"},{"key":"e_1_2_1_12_2","first-page":"1","volume-title":"The Hutterites in North America","author":"Hostetler JA","year":"1967"},{"key":"e_1_2_1_13_2","volume-title":"Banished for Faith","author":"Waltner EJ","year":"1968"},{"key":"e_1_2_1_14_2","unstructured":"KleinsasserJ: Unpublished church records of the Hutterites."}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320030305","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320030305","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,12]],"date-time":"2023-11-12T23:37:13Z","timestamp":1699832233000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320030305"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1979,1]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1979,1]]}},"alternative-id":["10.1002\/ajmg.1320030305"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320030305","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1979,1]]}}}