{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T12:38:36Z","timestamp":1740141516026,"version":"3.37.3"},"reference-count":32,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2017,5,30]],"date-time":"2017-05-30T00:00:00Z","timestamp":1496102400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2013\/19831\u20100"],"award-info":[{"award-number":["2013\/19831\u20100"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["470996\/2006\u20104","301926\/2007\u20107 (AR\u2010C)"],"award-info":[{"award-number":["470996\/2006\u20104","301926\/2007\u20107 (AR\u2010C)"]}],"id":[{"id":"10.13039\/501100003593","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":[[2017,7]]},"abstract":"<jats:sec><jats:label\/><jats:p>Mandibulofacial dysostosis (MFD) Bauru type (OMIM 604830) is a rare genetic condition characterized mainly by malar hypoplasia, orofacial cleft, and micrognathia. Here, we describe the clinical and radiographic sings of 13 individuals (12 female and 1 male) from eight unrelated kindreds with MFD Bauru type, including four previously reported cases, treated at the Hospital for Rehabilitation of Craniofacial Anomalies. The clinical phenotype was characterized by severe underdevelopment of mandible, midface hypoplasia, orofacial cleft, bitemporal narrowing, mild upper eyelid down slanting, high nasal bridge, thick and everted lower lip, minor ears abnormalities, and hearing loss. Radiographic aspects included downslanting of zygomatic arch, maxillary hypoplasia, microretrognathia, hypoplastic mandibular condyles, and ectopic external auditory canal. Recurrence was observed in two of eight families and the affected distribution pattern was compatible with autosomal dominant inheritance in one and autosomal recessive in another, indicating possible genetic heterogeneity for this condition. Clinical and radiographic findings in this report contribute to the delineation of this rare MFD.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38257","type":"journal-article","created":{"date-parts":[[2017,5,30]],"date-time":"2017-05-30T16:12:54Z","timestamp":1496160774000},"page":"1747-1753","source":"Crossref","is-referenced-by-count":0,"title":["Mandibulofacial dysostosis Bauru type: Refining the phenotype"],"prefix":"10.1002","volume":"173","author":[{"given":"Priscila P.","family":"Moura","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies University of S\u00e3o Paulo (HRCA\/USP) Bauru S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy M.","family":"Kokitsu\u2010Nakata","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies University of S\u00e3o Paulo (HRCA\/USP) Bauru S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00edlia S.","family":"Yatabe","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, Hospital for Rehabilitation of Craniofacial Anomalies, Bauru Dental School University of S\u00e3o Paulo (HRCA\/USP) Bauru S\u00e3o Paulo Brazil"},{"name":"Department of Orthodontics, Bauru Dental School University of S\u00e3o Paulo Bauru S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Siulan","family":"Vendramini\u2010Pittoli","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies University of S\u00e3o Paulo (HRCA\/USP) Bauru S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pedro H.","family":"Hori","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies University of S\u00e3o Paulo (HRCA\/USP) Bauru S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria L.","family":"Guion\u2010Almeida","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies University of S\u00e3o Paulo (HRCA\/USP) Bauru S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniela G.","family":"Garib","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, Hospital for Rehabilitation of Craniofacial Anomalies, Bauru Dental School University of S\u00e3o Paulo (HRCA\/USP) Bauru S\u00e3o Paulo Brazil"},{"name":"Department of Orthodontics, Bauru Dental School University of S\u00e3o Paulo Bauru S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Richieri\u2010Costa","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies University of S\u00e3o Paulo (HRCA\/USP) Bauru S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4526-3336","authenticated-orcid":false,"given":"Roseli M.","family":"Zechi\u2010Ceide","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies University of S\u00e3o Paulo (HRCA\/USP) Bauru S\u00e3o Paulo Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,5,30]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32612"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0032-1320066"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bjoms.2014.02.007"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.724"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1601-6343.2007.00388.x"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.251"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33806"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.11.020"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32693"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.01.015"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10631"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000220603.09661.7e"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980226)76:1<58::AID-AJMG10>3.0.CO;2-O"},{"key":"e_1_2_6_15_1","first-page":"67","article-title":"Bauru dental school growth center, university of S\u00e3o paulo","volume":"4","author":"Janson G.","year":"2001","journal-title":"Revista Dental Press de Ortodontia e Ortopedia Facial"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12596"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.023"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35696"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0b013e31822e84b1"},{"key":"e_1_2_6_20_1","first-page":"37","article-title":"A Newly recognized autossomal dominant mandibulalofacial dysostosis (Bauru\u2010type): Report on a brazilian family","volume":"1","author":"Mar\u00e7ano A. C. B.","year":"1998","journal-title":"Journal of Dysmorphic Speech\u2010Hearing Disorder"},{"volume-title":"Atlas de crescimento craniofacial (in Portuguese)","year":"1998","author":"Martins D. R.","key":"e_1_2_6_21_1"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201955"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/PRS.0000000000001896"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-010-1831-3"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31715"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1097\/PRS.0b013e318245e903"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31375"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0b013e328323a7dd"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32747"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12123"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bjps.2012.07.028"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990910)86:2<199::AID-AJMG24>3.0.CO;2-P"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33477"}],"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.38257","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.38257","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T18:40:34Z","timestamp":1696617634000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.38257"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,5,30]]},"references-count":32,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2017,7]]}},"alternative-id":["10.1002\/ajmg.a.38257"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.38257","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2017,5,30]]}}}