{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:15:12Z","timestamp":1792152912521,"version":"4.4.0"},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,4]],"date-time":"2005-06-04T00:00:00Z","timestamp":1117843200000},"content-version":"vor","delay-in-days":6729,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe two patients, a father and his daughter, with the cerebro\u2010costo\u2010mandibular syndrome. New manifestations not previously described include mi\u2010crostomia, long philtrum, posterior cervical skin fold, short internipple distance, and depressed sacral region. The presence of hydrocephaly in the proposita and spina bifida in the father may be other manifestations of neuraxial involvement in this syndrome. The first intrauterine ultrasonographic documentation of this syn\u2010drome showed polyhydramnios and, especially, the very unusual shape of the ribs, which were short and defective. Most characteristics of the pedigree point to autosomal dominant inheritance. The great variability of inheritance and expres\u2010sivity of the very few documented familial cases described in the literature, together with the great frequency of sporadic cases, indicates genetic heterogeneity of this syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320260129","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:45:18Z","timestamp":1118544318000},"page":"195-202","source":"Crossref","is-referenced-by-count":24,"title":["Autosomal dominant cerebro\u2010costo\u2010mandibular syndrome: Ultrasonographic and clinical findings"],"prefix":"10.1002","volume":"26","author":[{"given":"Paul","family":"Merlob","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex","family":"Schonfeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Grunebaum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomi","family":"Mor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salomon H.","family":"Reisner","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\/BF02388772"},{"key":"e_1_2_1_3_1","volume-title":"The course of the cerebro\u2010costo\u2010mandibular syndrome","author":"Harris DJ","year":"1977"},{"issue":"3","key":"e_1_2_1_3_2","first-page":"117","author":"the National Foundation\u2010March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb00370.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80479-3"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80343-5"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.45.241.421"},{"key":"e_1_2_1_8_1","volume-title":"Anthropometric Measurements of the Newborn Infant (27 to 41 gestational weeks)","author":"Merlob P","year":"1984"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.114.2.253"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(80)80190-9"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992288502400411"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278987"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.126.6.1223"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320260129","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320260129","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T13:20:11Z","timestamp":1695820811000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320260129"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,1]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1987,1]]}},"alternative-id":["10.1002\/ajmg.1320260129"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320260129","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,1]]}}}