{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,8]],"date-time":"2026-02-08T09:42:09Z","timestamp":1770543729339,"version":"3.49.0"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2008,2,1]],"date-time":"2008-02-01T00:00:00Z","timestamp":1201824000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2008,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Greig cephalopolysyndactyly syndrome (GCPS) is a rare multiple congenital anomaly syndrome that is inherited in an autosomal dominant pattern and is caused by haploinsufficiency of the <jats:italic>GLI3<\/jats:italic> gene. The syndrome typically includes preaxial or mixed pre\u2010 and postaxial polydactyly and cutaneous syndactyly, ocular hypertelorism, and macrocephaly in its typical forms, but sometimes includes hydrocephalus, seizures, mental retardation, and developmental delay in more severe cases. Patients with milder forms of GCPS can have subtle craniofacial dysmorphic features that are difficult to distinguish from normal variation. This article presents the spectrum of dysmorphic findings in GCPS highlighting some of its key presenting features to familiarize clinicians with the variable expressivity of the condition. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32167","type":"journal-article","created":{"date-parts":[[2008,2,2]],"date-time":"2008-02-02T00:16:34Z","timestamp":1201911394000},"page":"548-557","source":"Crossref","is-referenced-by-count":36,"title":["The clinical atlas of Greig cephalopolysyndactyly syndrome"],"prefix":"10.1002","volume":"146A","author":[{"given":"Katherine","family":"Balk","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leslie G.","family":"Biesecker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,2]]},"reference":[{"key":"e_1_2_5_2_1","first-page":"257","volume-title":"Inborn errors of development: The molecular basis of clinical disorders of morphogenesis","author":"Biesecker LG","year":"2004"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.029181"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20018"},{"key":"e_1_2_5_5_1","first-page":"818","article-title":"Greig cephalopolysyndactyly syndrome","volume":"133","author":"Duncan PA","year":"1979","journal-title":"Am J Dis Child"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.11.804"},{"key":"e_1_2_5_7_1","first-page":"937","volume-title":"Human malformations and related anomalies","author":"Everman D","year":"2006"},{"key":"e_1_2_5_8_1","doi-asserted-by":"crossref","DOI":"10.1093\/oso\/9780195118612.001.0001","volume-title":"Syndromes of the head and neck","author":"Gorlin RJ","year":"2001"},{"key":"e_1_2_5_9_1","first-page":"189","article-title":"Oxycephaly","volume":"33","author":"Greig DM","year":"1926","journal-title":"Edinb Med J"},{"key":"e_1_2_5_10_1","first-page":"507","volume-title":"Handbook of physical measurements","author":"Hall JG","year":"2007"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20318"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/429346"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.042473"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0397-266"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1443"},{"key":"e_1_2_5_16_1","first-page":"597","article-title":"Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15\u2010q11.23 by linkage analysis","volume":"60","author":"Radhakrishna U","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1197-269"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/302557"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440616"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/352539a0"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310411"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32167","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32167","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T20:04:13Z","timestamp":1699992253000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32167"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,2]]},"references-count":20,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2008,3]]}},"alternative-id":["10.1002\/ajmg.a.32167"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32167","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,2]]}}}