{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,21]],"date-time":"2026-02-21T09:47:02Z","timestamp":1771667222722,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2016,5,27]],"date-time":"2016-05-27T00:00:00Z","timestamp":1464307200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004229","name":"Fondazione Pierfranco e Luisa Mariani","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004229","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,8]]},"abstract":"<jats:sec><jats:label\/><jats:p>The Carey\u2013Finema\u2013Ziter syndrome (CFZS, MIM 254940) is an apparently autosomal recessively inherited disorder consisting of the combination of non\u2010progressive congenital myopathy with Moebius and Pierre Robin sequence, facial anomalies and growth delay. Mental development has been described as normal or delayed. Temporomandibular joint (TMJ) ankylosis is the immobility of the joint caused by ankylotic fusion of the mandible to the cranial base or zygoma. It is a serious and disabling condition that may cause problems in mastication, digestion, speech, appearance, and oral hygiene. Most often is a true ankylosis of the TMJ but other pathological mechanisms are described (i.e., the fusion of the coronoid process to temporal bone or with the zygoma, or a variety of soft tissues disorders like Fibrodysplasia Ossificans Progressiva). Here we report a 2\u2010year\u2010old girl fitting with a clinical diagnosis of CFZS associated with a limited mouth opening in which temporomandibular joint ankylosis was suspected. Because it has been postulated that many clinical features in CFZS may only be secondary effects of brainstem anomalies and muscle weakness during development, the limited opening of the mouth observed in our patient could represent a rare clinical feature of CFZS itself. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37767","type":"journal-article","created":{"date-parts":[[2016,5,27]],"date-time":"2016-05-27T14:42:51Z","timestamp":1464360171000},"page":"2191-2195","source":"Crossref","is-referenced-by-count":6,"title":["Temporomandibular joint ankylosis as part of the clinical spectrum of Carey\u2013Fineman\u2013Ziter syndrome?"],"prefix":"10.1002","volume":"170","author":[{"given":"Martina","family":"Pasetti","sequence":"first","affiliation":[{"name":"Department of Pediatric MBBM Foundation A.O.S. Gerardo Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fabio","family":"Mazzoleni","sequence":"additional","affiliation":[{"name":"Department of Cranio\u2010Maxillo\u2010Facial Surgery A.O.S. Gerardo Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giorgio","family":"Novelli","sequence":"additional","affiliation":[{"name":"Department of Cranio\u2010Maxillo\u2010Facial Surgery A.O.S. Gerardo Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"Iascone","sequence":"additional","affiliation":[{"name":"Molecular Genetics Laboratory A.O. Papa Giovanni XXIII Bergamo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Bozzetti","sequence":"additional","affiliation":[{"name":"Department of Cranio\u2010Maxillo\u2010Facial Surgery University of Milano Bicocca Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelo","family":"Selicorni","sequence":"additional","affiliation":[{"name":"Department of Pediatric Pediatric Genetic Unit MBBM Foundation A.O.S. Gerardo Monza Italy"},{"name":"Department of Pediatric A.S.S.T. Lariana Como Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,5,27]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/PRS.0b013e3181ebe207"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530208"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1754-4505.2011.00216.x"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80348-X"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20689"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20686"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.4103\/0970-4388.155136"},{"key":"e_1_2_5_9_1","first-page":"102","article-title":"Temporomandibular joint ankylosis surgery in a child: Case report","volume":"78","author":"Lima PV","year":"2011","journal-title":"J Dent Child (Chic)"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20688"},{"key":"e_1_2_5_11_1","first-page":"437","article-title":"Fibrodysplasia ossificans progressiva: Diagnosis, management, and therapeutic horizons","volume":"10","author":"Pignolo RJ","year":"2013","journal-title":"Pediatr Endocrinol Rev"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990115)82:2<110::AID-AJMG2>3.0.CO;2-O"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460625"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.joms.2011.11.003"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20687"}],"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.37767","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37767","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T04:06:58Z","timestamp":1696651618000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37767"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,5,27]]},"references-count":14,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2016,8]]}},"alternative-id":["10.1002\/ajmg.a.37767"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37767","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,5,27]]}}}