{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:26:43Z","timestamp":1786976803881,"version":"build-2736575974"},"reference-count":14,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,5]],"date-time":"2005-06-05T00:00:00Z","timestamp":1117929600000},"content-version":"vor","delay-in-days":5603,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1990,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Here we report on two sibs with Carpenter syndrome showing marked intrafamilial variability. One patient had craniosynostosis of the sagittal suture, normal intelligence, and no abnormalities of hands and feet. The second patient had polysyndactyly of hands and feet, normal intelligence, and no craniosynostosis. The diagnosis of Carpenter syndrome was made after the second affected child in the family was born. This report emphasizes previous suggestions that acrocephalopolysyndactyly, type II, has variable clinical expression. It is suggested that polysyndactyly of feet is not an absolute requisite for the diagnosis of Carpenter syndrome. This allows the inclusion of Summitt and Goodman syndromes within the clinical spectrum of this disorder.<\/jats:p>","DOI":"10.1002\/ajmg.1320350218","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T23:39:08Z","timestamp":1118533148000},"page":"236-240","source":"Crossref","is-referenced-by-count":24,"title":["Carpenter syndrome: Marked variability of expression to include the summitt and Goodman syndromes"],"prefix":"10.1002","volume":"35","author":[{"given":"Ruth","family":"Gershoni\u2010Baruch","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,5]]},"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 (Lond)"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280208"},{"key":"e_1_2_1_4_1","first-page":"716","article-title":"Acrocephalopolysyndactyly type II (Carpenter syndrome)","volume":"124","author":"Der Kaloustian VM","year":"1972","journal-title":"Am J Dis Chil"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320020210"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220106"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb00969.x"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320050413"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(64)80403-0"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200307"},{"key":"e_1_2_1_11_1","first-page":"322","article-title":"\u00dcber zwei ungew\u00f6hnliche Dyscranio\u2010Dysphalangien bei Geschwistern (atypische Akrocephalosyndaktylie) und fragliche Dysencephalia splanchnocystica","volume":"114","author":"Sch\u00f6nenberg J","year":"1966","journal-title":"Monatsschr Kinderheilkd"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320030108"},{"key":"e_1_2_1_13_1","series-title":"BD:OAS","first-page":"35","volume-title":"Malformation Syndromes","author":"Summitt RL","year":"1969"},{"key":"e_1_2_1_14_1","first-page":"148","article-title":"Endocrine clinic: 1) diabetes insipidus, 2) Lawrence\u2010Moon\u2010Biedl syndrome","volume":"24","author":"Turner H","year":"1931","journal-title":"J Okla State Med Assoc"},{"key":"e_1_2_1_15_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.1320350218","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320350218","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T20:30:06Z","timestamp":1698006606000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320350218"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,2]]},"references-count":14,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1990,2]]}},"alternative-id":["10.1002\/ajmg.1320350218"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320350218","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,2]]}}}