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The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII, its first symptoms often presenting during the second decade. This study analyzes the clinical course of 13 affected individuals of three related families (32 individuals). The disorder appears to have an autosomal\u2010dominant transmission pattern. Facial and vestibulocochlear nerve dysfunction are most frequently reported. Surgical decompression of the accessible impaired cranial nerves is advised in the early symptomatic period or even in the presymptomatic period in high\u2010risk individuals. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33205","type":"journal-article","created":{"date-parts":[[2010,2,5]],"date-time":"2010-02-05T22:49:13Z","timestamp":1265410153000},"page":"547-555","source":"Crossref","is-referenced-by-count":11,"title":["Phenotypic manifestations and management of hyperostosis cranialis interna, a hereditary bone dysplasia affecting the calvaria and the skull base"],"prefix":"10.1002","volume":"152A","author":[{"given":"J.J.","family":"Waterval","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.J.","family":"Stokroos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.J.C.","family":"Bauer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.B.J.","family":"De Bondt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.J.","family":"Manni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,2,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.surneu.2008.02.030"},{"key":"e_1_2_6_3_1","doi-asserted-by":"crossref","first-page":"1643","DOI":"10.2106\/00004623-200111000-00004","article-title":"Dominant endosteal hyperostosis: Skeletal characteristics and review of the literature","volume":"83","author":"Beals RK","year":"2001","journal-title":"J Bone Joint Surg Am"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000658-193210000-00026"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2003.00036.x"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8644(199907)109:3<303::AID-AJPA3>3.0.CO;2-I"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/chemse\/22.1.39"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.033522"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199002153220707"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.3109\/00016489209100786"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1227\/01.NEU.0000324726.93370.5C"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31483"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ca.20613"},{"key":"e_1_2_6_14_1","first-page":"243","article-title":"The pathogenesis of hyperostosis corticalis generalisata and calcitonin","volume":"73","author":"Van Buchem FS","year":"1970","journal-title":"Proc K Ned Akad Wet C"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.0954-6820.1971.tb04373.x"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0455.2003.00088.x"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1017\/S0022215109005349"},{"key":"e_1_2_6_18_1","first-page":"67","article-title":"Hyperostosis corticalis generalisata congenita","volume":"17","author":"Worth HM","year":"1966","journal-title":"J Can Assoc Radiol"}],"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.33205","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33205","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T20:22:46Z","timestamp":1697055766000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33205"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,2,5]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2010,3]]}},"alternative-id":["10.1002\/ajmg.a.33205"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33205","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,2,5]]}}}