{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T02:16:08Z","timestamp":1740104168585,"version":"3.37.3"},"reference-count":4,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2002,4,1]],"date-time":"2002-04-01T00:00:00Z","timestamp":1017619200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001673","name":"J\u00e9r\u00f4me Lejeune Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001673","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A sister and a brother with anomalous skull configuration, facial abnormalities, abnormal scalp hair growth, sensorineural hearing loss and, in the boy, proven craniosynostosis, severe mental retardation, and autism were reported in 1986 in an abstract by Hersh et al. We reexamined this family and here review the literature focusing on the major clinical findings, and suggest that their clinical manifestations may represent a previously unreported syndrome. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10370","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T23:45:33Z","timestamp":1030319133000},"page":"323-327","source":"Crossref","is-referenced-by-count":3,"title":["Craniosynostosis, telecanthus, scalp hair abnormalities, and sensorineural deafness in two sibs"],"prefix":"10.1002","volume":"109","author":[{"given":"Andr\u00e9","family":"M\u00e9garban\u00e9","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joseph H.","family":"Hersh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eliane","family":"Chouery","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel","family":"Fabre","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,4]]},"reference":[{"volume-title":"Oxford monographs on medical genetics No. 28","year":"1995","author":"Gorlin RJ","key":"e_1_2_4_2_1"},{"key":"e_1_2_4_3_1","first-page":"186","article-title":"Craniosynostosis, sensorineural hearing loss and craniofacial abnormalities in siblings","volume":"5","author":"Hersh JH","year":"1986","journal-title":"Proc Greenwood Genet Ctr"},{"issue":"2","key":"e_1_2_4_4_1","first-page":"372","article-title":"New syndrome of skeletal, dental and hair anomalies","volume":"11","author":"Sensenbrenner JA","year":"1975","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.6.393"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10370","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10370","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T10:06:06Z","timestamp":1700301966000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10370"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,4]]},"references-count":4,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2002,5,15]]}},"alternative-id":["10.1002\/ajmg.10370"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10370","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"type":"print","value":"0148-7299"},{"type":"electronic","value":"1096-8628"}],"subject":[],"published":{"date-parts":[[2002,4]]}}}