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Both have severe myopia, mild to moderate sensori\u2010neural hearing loss and borderline intelligence. Results of chromosome analysis were normal as was a FISH assay for subtelomeric rearrangements. The father has mild hypertelorism but the family history is otherwise unremarkable. We think that this represents a previously unrecognized autosomal or X\u2010linked recessive syndrome. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31594","type":"journal-article","created":{"date-parts":[[2007,1,17]],"date-time":"2007-01-17T19:53:34Z","timestamp":1169063614000},"page":"229-234","source":"Crossref","is-referenced-by-count":24,"title":["Severe hypertelorism, midface prominence, prominent\/simple ears, severe myopia, borderline intelligence, and bone fragility in two brothers: New syndrome?\u2020"],"prefix":"10.1002","volume":"143A","author":[{"given":"Hanan A.","family":"Hamamy","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ahmad S.","family":"Teebi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamaldine","family":"Oudjhane","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.N.","family":"Shegem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.M.","family":"Ajlouni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,1,17]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000605)92:4<273::AID-AJMG10>3.0.CO;2-T"},{"key":"e_1_2_7_3_1","doi-asserted-by":"crossref","DOI":"10.1093\/oso\/9780195118612.001.0001","volume-title":"Syndromes of the head and neck","author":"Gorlin RJ","year":"2001"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0901-5027(96)80048-8"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10919"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000814)93:4<335::AID-AJMG14>3.0.CO;2-5"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2004.08.004"},{"key":"e_1_2_7_8_1","first-page":"14","article-title":"Syndromes with congenital brittle bones","volume":"31","author":"Plotkin H","year":"2004","journal-title":"BMC Pediatr"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)16051-0"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330118"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2003-44666"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960111)61:2<147::AID-AJMG8>3.0.CO;2-U"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.2.101"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280306"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440127"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10870"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20193"}],"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.31594","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31594","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,10]],"date-time":"2024-02-10T07:52:19Z","timestamp":1707551539000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31594"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,1,17]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2007,2]]}},"alternative-id":["10.1002\/ajmg.a.31594"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31594","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,1,17]]}}}