{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T18:36:13Z","timestamp":1784140573586,"version":"3.55.0"},"reference-count":34,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,4]],"date-time":"2005-06-04T00:00:00Z","timestamp":1117843200000},"content-version":"vor","delay-in-days":6456,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Carpenter syndrorne (ACPS type II) was first described by Carpenter in 1901. The syndrome consists of acrocephaly, soft tissue syndactyly, brachy\u2010 or agenesis mesophalangy of the hands and feet, preaxial polydactyly, congenital heart disease, mental retardation, hypogenitalism, obesity, and umbilical hernia. Here we review the literature on Carpenter syndrome and add 2 affected sibs with marked intrafamilial variability. This review showed that 2 reported variations of Carpenter syndrome, Goodman and Summitt syndromes, actually fall within the clinical spectrum of this disorder. This confirms earlier suggestions of Gorlin (personal communication 1982) and Hall et al [Am J Med Genet 5:423\u201334, 1980].<\/jats:p>","DOI":"10.1002\/ajmg.1320280208","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:26:37Z","timestamp":1118496397000},"page":"311-324","source":"Crossref","is-referenced-by-count":63,"title":["Acrocephalopolysyndactyly type II\u2014Carpenter syndrome: Clinical spectrum and an attempt at unification with Goodman and Summit syndromes"],"prefix":"10.1002","volume":"28","author":[{"given":"Donald M.","family":"Cohen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James G.","family":"Green","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janice","family":"Miller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert J.","family":"Gorlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerry A.","family":"Reed","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":[[2005,6,4]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-7091-5425-0"},{"key":"e_1_2_1_3_1","first-page":"349","article-title":"Zesp\u00f3l Carpentera U 11\u2010letniej dziewczynki","volume":"47","author":"Bartkowiak K","year":"1972","journal-title":"Pediatr Pol"},{"key":"e_1_2_1_4_1","first-page":"110","article-title":"Two sisters showing malformations of the skull andothercongcnital abnormalities","volume":"1","author":"Carpenter G","year":"1901","journal-title":"Rep Soc Study Dis Child (Lond)"},{"issue":"1","key":"e_1_2_1_5_1","first-page":"45","volume":"2","author":"Carpenter G","year":"1909","journal-title":"Proc R Soc Med"},{"key":"e_1_2_1_6_1","first-page":"199","article-title":"Case of acrocephaly with other congenital malformations","volume":"2","author":"Carpenter G","year":"1909","journal-title":"Autopsy. 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