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Although all had gross motor delay in early infancy, two had normal intelligence at 12 months and 10 years, respectively. Bony abnormalities contributed to functional impairment especially in the older children. Preaxial polydactyly of feet was present in all three affected sibs and in all other reported individuals with this condition, allowing differentiation of Carpenter syndrome from the other autosomal\u2010recessive acrocephalopolysyndactyly syndromes.<\/jats:p>","DOI":"10.1002\/ajmg.1320200307","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:57:10Z","timestamp":1118519830000},"page":"461-469","source":"Crossref","is-referenced-by-count":44,"title":["Carpenter Syndrome: Natural history and clinical spectrum"],"prefix":"10.1002","volume":"20","author":[{"given":"Luther K.","family":"Robinson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hector E.","family":"James","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott J.","family":"Mubarak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth J.","family":"Allen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth L.","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","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","first-page":"110","article-title":"Two sisters showing malformations of the skull and other congenital abnormalities","volume":"1","author":"Carpenter G","year":"1901","journal-title":"Rep Soc Study Dis Child"},{"key":"e_1_2_1_3_1","first-page":"249","volume-title":"Skeletal Dysplasias","author":"Eaton AP","year":"1974"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320020210"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb00969.x"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320050413"},{"key":"e_1_2_1_7_1","first-page":"120","article-title":"Akrozephalo\u2010Polysyndaktylie (Akrozephalosyndaktylie), Typ II McKusick (Carpenter Syndrome). Bericht \u00fcber 4 F\u00e4lle und eine Beobachtung des Typs van Marshall\u2010Smith","volume":"189","author":"Pfeiffer RA","year":"1977","journal-title":"Klin Padiatr"},{"issue":"3","key":"e_1_2_1_8_1","first-page":"35","article-title":"Recessive acrocephalosyndactyly with normal intelligence","author":"Summitt RL","year":"1969","journal-title":"Birth Defects"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1937.04140090028003"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320200307","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320200307","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T15:36:58Z","timestamp":1697902618000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320200307"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,3]]},"references-count":8,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1985,3]]}},"alternative-id":["10.1002\/ajmg.1320200307"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320200307","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,3]]}}}