{"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":1786976803962,"version":"build-2736575974"},"reference-count":20,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4389,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>We report a family with a newly recognized form of autosomal dominant craniosynostosis. The disorder has high penetrance and variable expression with respect to sutural involvement and cranial abnormalities, ranging from fronto\u2010orbital recession to clover\u2010leaf skull deformity. Associated problems included headache, poor vision, and seizures; intelligence, however, is normal. Assignment of a well\u2010described syndromic designation, e.g., Crouzon, Pfeiffer, Saethre\u2010Chotzen, or Jackson\u2010Weiss, is precluded based upon the absence of characteristic changes, i.e., midfacial hypoplasia, orbital hypertelorism, blepharoptosis, hand anomalies, or foot anomalies. The large size of this family and high penetrance of the disorder suggests that this may be an excellent candidate for positional cloning of a locus important in craniofacial development. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320460420","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T12:28:22Z","timestamp":1118492902000},"page":"444-449","source":"Crossref","is-referenced-by-count":71,"title":["Newly recognized autosomal dominant disorder with craniosynostosis"],"prefix":"10.1002","volume":"46","author":[{"given":"Matthew L.","family":"Warman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John B.","family":"Mulliken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter G.","family":"Hayward","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ulrich","family":"M\u00fcller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1961.18.2.0239"},{"key":"e_1_2_1_3_1","volume-title":"Malformation Syndromes","author":"Cohen MM","year":"1975"},{"issue":"2","key":"e_1_2_1_3_2","first-page":"137","journal-title":"BD:OAS"},{"key":"e_1_2_1_4_1","first-page":"26","volume-title":"Craniosynostosis: Diagnosis, Evaluation, and Management","author":"Cohen MM","year":"1986"},{"key":"e_1_2_1_5_1","volume-title":"Annual Review of Birth Defects","author":"Escobar V","year":"1977"},{"issue":"3","key":"e_1_2_1_5_2","first-page":"139","journal-title":"BD:OAS"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.2.5155.792"},{"key":"e_1_2_1_7_1","first-page":"519","volume-title":"Syndromes of the Head and Neck","author":"Gorlin RJ","year":"1990"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03598.x"},{"key":"e_1_2_1_9_1","first-page":"45","article-title":"Craniosynostosis and craniosynostosis syndromes","volume":"66","author":"Herrmann J","year":"1969","journal-title":"Rocky Mtn Med J"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420150312"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1964.02090010629008"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(76)81050-5"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1975.tb03531.x"},{"key":"e_1_2_1_14_1","first-page":"1","article-title":"Crouzon syndrome","volume":"18","author":"Kreiborg S","year":"1981","journal-title":"Scand J Plast Reconstr Surg (Suppl)"},{"key":"e_1_2_1_15_1","first-page":"46","volume-title":"Atlas of Foot Radiology","author":"Montagne J","year":"1981"},{"key":"e_1_2_1_16_1","volume-title":"Malformation Syndromes","author":"Pantke OA","year":"1975"},{"issue":"2","key":"e_1_2_1_16_2","first-page":"190","journal-title":"BD:OAS"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00447500"},{"key":"e_1_2_1_18_1","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1177\/003591573102400527","article-title":"Hereditary and familial oxycephaly","volume":"24","author":"Sheldon W","year":"1931","journal-title":"Proc Royal Soc Med"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320460420","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320460420","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,26]],"date-time":"2023-10-26T01:28:08Z","timestamp":1698283688000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320460420"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,6]]},"references-count":20,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1993,6]]}},"alternative-id":["10.1002\/ajmg.1320460420"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320460420","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,6]]}}}