{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,31]],"date-time":"2025-10-31T16:48:47Z","timestamp":1761929327508},"reference-count":4,"publisher":"Wiley","issue":"21","license":[{"start":{"date-parts":[[2007,3,29]],"date-time":"2007-03-29T00:00:00Z","timestamp":1175126400000},"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":[[2007,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In 1983, Fine and Lubinsky reported a single patient with craniofacial anomalies, hearing loss, cataracts, microstomia, CNS anomalies, and developmental delay. Since that time, three additional patients with similar findings have been described. In each case the patients was the only affected child in his or her family. Here we describe the first brother and sister sibling pair with features suggestive of Fine\u2013Lubinsky syndrome. Features present in one or both of our patients, and the majority of previously described individuals with Fine\u2013Lubinsky syndrome, include: craniosynostosis\/abnormal calvaria, prominent frontal bones, flat facial profiles, small noses, microstomia, hearing loss, developmental delay\/mental retardation, and abnormal digits. Unusual anomalies present in our patients include marked brachydactyly of fingers and toes, camptodactyly most severely affecting the second fingers, and permanence of decidual teeth. The identification of a sibling pair with Fine\u2013Lubinsky suggests a possible autosomal recessive inheritance pattern. It is important that parents of children with Fine\u2013Lubinsky be informed of the increased recurrence risk associated with that type of inheritance. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31688","type":"journal-article","created":{"date-parts":[[2007,3,29]],"date-time":"2007-03-29T18:50:26Z","timestamp":1175194226000},"page":"2576-2580","source":"Crossref","is-referenced-by-count":6,"title":["Fine\u2013Lubinsky syndrome: Sibling pair suggests possible autosomal recessive inheritance"],"prefix":"10.1002","volume":"143A","author":[{"given":"Ashley M.","family":"Holder","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brett H.","family":"Graham","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brendan","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daryl A.","family":"Scott","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,3,29]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199601000-00008"},{"key":"e_1_2_5_3_1","first-page":"6","article-title":"Craniofacial and CNS anomalies with body asymmetry, severe retardation, and other malformations","volume":"1","author":"Fine BA","year":"1983","journal-title":"J Clin Dysmorphol"},{"key":"e_1_2_5_4_1","first-page":"30","article-title":"Sensorineural hearing loss, small facial features, submucous cleft palate, and myoclonic seizures","volume":"2","author":"Preus M","year":"1984","journal-title":"J Clin Dysmorphol"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199310000-00006"}],"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.31688","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31688","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T02:13:22Z","timestamp":1697595202000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31688"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,3,29]]},"references-count":4,"journal-issue":{"issue":"21","published-print":{"date-parts":[[2007,11]]}},"alternative-id":["10.1002\/ajmg.a.31688"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31688","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,3,29]]}}}