{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:46:08Z","timestamp":1790833568070,"version":"4.1.0"},"reference-count":42,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,1,21]],"date-time":"2005-01-21T00:00:00Z","timestamp":1106265600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Academy of Finland, Finnish Dental Society and Finnish Women Dentists"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Osteogenesis imperfecta (OI) is a heterogeneous group of connective tissue diseases that mainly manifest as bone fragility and skeletal deformity. In most families it segregates as a dominant trait and results from mutations in type I collagen genes. In this study we analyzed the size and form of the bony structures in heads of 59 consecutive patients with OI types I, III, or IV (Sillence classification), using lateral radiographs. Paired controls were matched for gender and age. The purpose was to obtain baseline information of craniofacial development in OI patients that have not received bisphosphonate treatment. In OI type I we found smaller than normal linear measurements, indicating a general growth deficiency, but no remarkable craniofacial deformity. In OI types III and IV, the growth impairment was pronounced, and the craniofacial form was altered as a result of differential growth deficiency and bending of the skeletal head structures. We found strong support both for an abnormally ventral position of the sella region due to bending of the cranial base, and for a closing mandibular growth rotation. Vertical underdevelopment of the dentoalveolar structures and the condylar process were identified as the main reasons for the relative mandibular prognathism in OI. Despite of the widespread intervention with bisphosphonates, the facial growth impairment will probably remain characteristic for many OI patients, and their orthodontic treatment should be further developed. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30523","type":"journal-article","created":{"date-parts":[[2005,1,22]],"date-time":"2005-01-22T01:56:48Z","timestamp":1106359008000},"page":"142-150","source":"Crossref","is-referenced-by-count":61,"title":["Craniofacial features in osteogenesis imperfecta: A cephalometric study"],"prefix":"10.1002","volume":"133A","author":[{"given":"Janna","family":"Waltimo\u2010Sir\u00e9n","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Kolkka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seppo","family":"Pynn\u00f6nen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaija","family":"Kuurila","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilkka","family":"Kaitila","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Outi","family":"Kovero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,1,21]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0889-5406(94)70036-2"},{"key":"e_1_2_6_3_1","first-page":"317","volume-title":"Connective tissue and its heritable disorders: Molecular, genetic, and medical aspects","author":"Byers PH","year":"1993"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/00008480-200012000-00016"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0278-2391(82)90286-5"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00361366"},{"key":"e_1_2_6_7_1","first-page":"830","article-title":"Orthognathic surgery in osteogenesis imperfecta","volume":"34","author":"Freedus MS","year":"1976","journal-title":"J Oral Surg"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199810013391402"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2000.15.9.1650"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.2002.17.1.30"},{"key":"e_1_2_6_11_1","volume-title":"The activator in orthodontics","author":"Harvold EP","year":"1974"},{"key":"e_1_2_6_12_1","first-page":"31","article-title":"Morphological studies on osteogenesis imperfecta, especially in teeth, dental arch and facial cranium","volume":"7","author":"Isshiki Y","year":"1966","journal-title":"Bull Tokyo Dent Coll"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9416(75)90065-2"},{"key":"e_1_2_6_14_1","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1227\/00006123-199109000-00012","article-title":"Surgical access to the base of the skull and upper cervical spine by extended maxillotomy","volume":"29","author":"James D","year":"1991","journal-title":"Neurosurgery"},{"key":"e_1_2_6_15_1","first-page":"49","volume-title":"OI\u2010consensus conference","author":"Jensen BL","year":"2002"},{"key":"e_1_2_6_16_1","first-page":"121","article-title":"Osteogenesis imperfecta: Clinical, cephalometric and biochemical investigations of OI types I, III, and IV","volume":"17","author":"Jensen BL","year":"1997","journal-title":"J Craniofac Genet Dev Biol"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/ortho\/30.4.291"},{"key":"e_1_2_6_18_1","first-page":"1","article-title":"The effect of professional violin and viola playing on the bony facial structures","volume":"19","author":"Kovero O","year":"1997","journal-title":"Eur J Orthodont"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/ejo\/19.4.369"},{"key":"e_1_2_6_20_1","first-page":"127","article-title":"Dental findings in osteogenesis imperfecta: II. Dysplastic and other developmental defects","volume":"7","author":"Lukinmaa P\u2010L","year":"1987","journal-title":"J Craniofac Genet Dev Biol"},{"key":"e_1_2_6_21_1","first-page":"79","volume-title":"OI\u2010consensus conference","author":"Malmgren B","year":"2002"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9416(85)90068-5"},{"key":"e_1_2_6_23_1","first-page":"240","volume-title":"Applied statistics and probability for engineers","author":"Montgomery DC","year":"2003"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9416(69)90034-7"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1079-2104(99)70272-6"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1010-5182(05)80219-7"},{"key":"e_1_2_6_27_1","first-page":"18","volume-title":"Contemporary orthodontics","author":"Proffit WR","year":"1992"},{"key":"e_1_2_6_28_1","first-page":"139","volume-title":"Contemporary orthodontics","author":"Proffit WR","year":"1992"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/S8756-3282(97)00182-8"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.3109\/00016359509005966"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9416(69)90122-5"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.3171\/jns.1997.86.6.0950"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/0030-4220(84)90206-8"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1016\/0003-9969(73)90075-7"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02011910"},{"key":"e_1_2_6_36_1","first-page":"113","article-title":"Clinical variability in osteogenesis imperfecta\u2014Variable expressivity or genetic heterogeneity","volume":"15","author":"Sillence DO","year":"1979","journal-title":"Birth Defects"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.2.101"},{"key":"e_1_2_6_38_1","first-page":"56","article-title":"Incisor and jaw relationship in 27 persons with osteogenesis imperfecta","volume":"93","author":"Stenvik A","year":"1985","journal-title":"Scand J Dent Res"},{"key":"e_1_2_6_39_1","doi-asserted-by":"publisher","DOI":"10.17796\/jcpd.26.2.r852g46052604266"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.3109\/00016359509005964"},{"key":"e_1_2_6_41_1","first-page":"59","volume-title":"OI\u2010consensus conference","author":"Waltimo J","year":"2002"},{"key":"e_1_2_6_42_1","unstructured":"WaltimoJ Kleemola\u2010KujalaE.1999.Orthodontic treatment of young Osteogenesis imperfecta patients with the functional Fr\u00e4nkel appliance. Abstract. 7th International Conference on Osteogenesis imperfecta. Montr\u00e9al Canada."},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1097\/00009957-200303000-00001"}],"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.30523","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30523","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T02:42:55Z","timestamp":1697596975000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30523"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,1,21]]},"references-count":42,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2005,3]]}},"alternative-id":["10.1002\/ajmg.a.30523"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30523","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,1,21]]}}}