{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T22:23:48Z","timestamp":1759703028139},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2001,11,14]],"date-time":"2001-11-14T00:00:00Z","timestamp":1005696000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[2002,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The association of craniosynostosis with ectopia lentis is extremely rare. This was recently reported in monozygotic twin sisters, supporting a genetic etiology for this syndromic association. We report on female first cousins once removed who were born with unilateral coronal synostosis. One cousin also had peripheral pulmonic branch stenosis at birth and was later found to have ectopia lentis and severe myopia. The other cousin had an atrial septal defect, mitral valve prolapse, and only mild myopia. Their intelligence is normal. The inheritance is likely autosomal dominant with variable expression and incomplete penetrance and further defines this syndrome to include congenital heart defects. These findings will have important implications for genetic counseling. \u00a9 2001 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10124","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T16:35:44Z","timestamp":1030293344000},"page":"38-42","source":"Crossref","is-referenced-by-count":5,"title":["Craniosynostosis, ectopia lentis, and congenital heart defects: Further delineation of an autosomal dominant syndrome with incomplete penetrance"],"prefix":"10.1002","volume":"107","author":[{"given":"Nada L.","family":"Quercia","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ahmad S.","family":"Teebi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2001,11,14]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1096-174"},{"key":"e_1_2_5_3_1","first-page":"1121","volume-title":"Principles and practice of medical genetics","author":"Cohen MM","year":"1997"},{"key":"e_1_2_5_4_1","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1002\/(SICI)1096-8628(19990129)82:3%3C201::AID-AJMG1%3E3.0.CO;2-E","article-title":"Craniosynostosis associated with ectopia lentis in monozygotic twin sisters","volume":"82","author":"Cruysberg JRM","year":"1999","journal-title":"Am J Med Genet"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-42"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(98)70366-X"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0197-36"},{"key":"e_1_2_5_8_1","first-page":"9","article-title":"Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation","volume":"36","author":"Lajeunie E","year":"1999","journal-title":"J Med Genet"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-269"},{"key":"e_1_2_5_10_1","first-page":"555","article-title":"A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome","volume":"60","author":"Muenke M","year":"1997","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0039-6257(82)90069-8"},{"key":"e_1_2_5_12_1","first-page":"348","article-title":"Dysostose craniofaciale avec ectopie du crystallin","volume":"7","author":"Pesme","year":"1950","journal-title":"Arch Fr Pediatr"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.34.8.632"},{"key":"e_1_2_5_14_1","first-page":"97","article-title":"Oxycephaly, bilateral ectopia lentis, and retinal detachment","volume":"24","author":"Reichel E","year":"1992","journal-title":"Ann Ophthalmol"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0295-173"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.3.323"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0295-165"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10124","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10124","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,19]],"date-time":"2023-11-19T12:10:39Z","timestamp":1700395839000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10124"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,11,14]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2002,1]]}},"alternative-id":["10.1002\/ajmg.10124"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10124","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,11,14]]}}}