{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T11:32:17Z","timestamp":1789644737203,"version":"4.0.0"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":5420,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1990,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>An unique inherited skeletal disorder had been identified in 47 patients in 6 generations of an Afrikaner family in Southern Africa. Pain develops in the hip joints in early childhood in the majority of affected persons and the course is progressive with severe crippling by early adulthood. General health is good, height is not significantly reduced, and there is no extra\u2010skeletal involvement. The major changes are in the femoral capital epiphyses, which are severely flattened and irregular; secondary osteoarthrosis develops at an early age.<\/jats:p><jats:p>Pedigree data indicate autosomal dominant inheritance with a reasonably consistent phenotypic expression. In view of the fact that only members of the Beukes family have been identified as suffering from the condition, the designation \u201cBeukes familial hip dysplasia\u201d (BFHD) is proposed.<\/jats:p>","DOI":"10.1002\/ajmg.1320360403","type":"journal-article","created":{"date-parts":[[2005,9,6]],"date-time":"2005-09-06T13:37:15Z","timestamp":1126013835000},"page":"386-390","source":"Crossref","is-referenced-by-count":33,"title":["Beukes familial hip dysplasia: An autosomal dominant entity"],"prefix":"10.1002","volume":"36","author":[{"given":"H. J.","family":"Cilliers","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Beighton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190116"},{"key":"e_1_2_1_3_1","first-page":"223","article-title":"Hip disease of Mseleni","volume":"141","author":"du Toit GT","year":"1979","journal-title":"Clin Orthop"},{"key":"e_1_2_1_4_1","doi-asserted-by":"crossref","first-page":"142","DOI":"10.1097\/00003086-198705000-00020","article-title":"Namaqualand hip dysplasia: Orthopedic implications","volume":"218","author":"Learmonth ID","year":"1987","journal-title":"Clin Orthop"},{"key":"e_1_2_1_5_1","first-page":"345","article-title":"Four recently described osteochondrodysplasias","volume":"104","author":"Maroteaux P","year":"1982","journal-title":"Prog Clin Biol Res"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.3109\/17453676408989316"},{"key":"e_1_2_1_7_1","article-title":"Studien \u00fcber Heredit\u00e4re, Multiple Epiphysenst\u00f6rungen","volume":"34","author":"Ribbing S","year":"1937","journal-title":"Acta Radiol [Suppl]"},{"key":"e_1_2_1_8_1","first-page":"994","article-title":"Upington disease: A familial dyschondroplasia","volume":"1971","author":"Schweitzer G","year":"1971","journal-title":"S Afr Med J Sept."},{"key":"e_1_2_1_9_1","first-page":"46","article-title":"The epiphyseal dysplasias","volume":"114","author":"Spranger J","year":"1975","journal-title":"Clin Orthop"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.3109\/17453678108991784"},{"key":"e_1_2_1_11_1","first-page":"97","article-title":"Hereditary Legg\u2010Calv\u00e9 Perthes' disease","volume":"106","author":"Wamoscher Z","year":"1962","journal-title":"Am J Dis Child"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320360403","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320360403","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T14:22:46Z","timestamp":1697984566000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320360403"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,8]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1990,8]]}},"alternative-id":["10.1002\/ajmg.1320360403"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320360403","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,8]]}}}