{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,21]],"date-time":"2025-11-21T12:23:31Z","timestamp":1763727811603,"version":"3.40.5"},"reference-count":33,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2020,9,18]],"date-time":"2020-09-18T00:00:00Z","timestamp":1600387200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The aim of this study was to evaluate the oral, dental, and craniofacial features of individuals affected by the chronic forms of acid sphingomyelinase deficiency (ASMD). This study comprised a sample of adult and pediatric patients (<jats:italic>n<\/jats:italic> = 8) with chronic ASMD. The individuals underwent oral examinations to evaluate the occurrence of caries, as well as full\u2010mouth periodontal examinations, to assess the occurrence and severity of periodontal diseases. Panoramic and profile radiographs were obtained to analyze dental conditions and craniofacial parameters. Participants also answered questionnaires to identify systemic impairment, parafunctional habits, and bruxism. Dental anomalies of size, shape, and number were found, with agenesis and microdontia being the predominant findings. The average of caries experience was 11.75 (\u00b18.1). Only one patient had periodontal health and all adult individuals had periodontitis at different stages and degrees. Bruxism was found in 87.5% of the sample. The convex profile and maxillary and mandibular retrusion were the most relevant findings in the cephalometric analysis. It is concluded that individuals with chronic ASMD, in addition to several systemic manifestations, present significant modifications in their oral health, from a greater occurrence of dental anomalies, caries, periodontal disease, in addition to skeletal changes.<\/jats:p>","DOI":"10.1002\/ajmg.a.61871","type":"journal-article","created":{"date-parts":[[2020,9,18]],"date-time":"2020-09-18T14:09:24Z","timestamp":1600438164000},"page":"2891-2901","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Oral, dental, and craniofacial features in chronic acid sphingomyelinase deficiency"],"prefix":"10.1002","volume":"182","author":[{"given":"Cl\u00e1ubia V.","family":"Bender","sequence":"first","affiliation":[{"name":"Department of Oral Pathology, School of Dentistry Universidade Federal do Rio Grande do Sul  Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3456-7043","authenticated-orcid":false,"given":"Heraldo L. D.","family":"da Silveira","sequence":"additional","affiliation":[{"name":"Department of Oral Radiology, School of Dentistry Universidade Federal do Rio Grande do Sul  Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nat\u00e1lia S.","family":"dos Santos","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology, School of Dentistry Universidade Federal do Rio Grande do Sul  Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0062-6604","authenticated-orcid":false,"given":"Juliano","family":"Cavagni","sequence":"additional","affiliation":[{"name":"Department of Periodontology, School of Dentistry Universidade Federal do Rio Grande do Sul  Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9307-1980","authenticated-orcid":false,"given":"Pantelis V.","family":"Rados","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology, School of Dentistry Universidade Federal do Rio Grande do Sul  Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela B.","family":"John","sequence":"additional","affiliation":[{"name":"Pulmonary Service Hospital de Cl\u00ednicas de Porto Alegre  Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7280-6260","authenticated-orcid":false,"given":"Carolina F. M.","family":"De Souza","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital de Clinicas de Porto Alegre  Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9655-3686","authenticated-orcid":false,"given":"Roberto","family":"Giugliani","sequence":"additional","affiliation":[{"name":"Medical Genetics Service Hospital de Clinicas de Porto Alegre  Porto Alegre RS Brazil"},{"name":"Department of Genetics Universidade Federal do Rio Grande do Sul  Porto Alegre RS Brazil"},{"name":"DR Brazil Research Group Clinical Research Center, Hospital de Clinicas de Porto Alegre  Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4033-8431","authenticated-orcid":false,"given":"Fernanda","family":"Visioli","sequence":"additional","affiliation":[{"name":"Department of Oral Pathology, School of Dentistry Universidade Federal do Rio Grande do Sul  Porto Alegre RS Brazil"},{"name":"Experimental Research Center Hospital de Clinicas de Porto Alegre  Porto Alegre RS Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,9,18]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.scr.2016.09.026"},{"key":"e_1_2_9_3_1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1136\/bcr-2012-006959","article-title":"r542x mutation in smpd1 gene: Genetically novel mutation with phenotypic features intermediate between type a and type B Niemann\u2010pick disease","volume":"2012","author":"Aneja A.","year":"2012","journal-title":"BMJ Case Reports"},{"key":"e_1_2_9_4_1","doi-asserted-by":"crossref","first-page":"323","DOI":"10.5603\/FM.a2017.0087","article-title":"Investigation of prevalence of dental anomalies by using digital panoramic radiographs","volume":"77","author":"Bilge N. H.","year":"2018","journal-title":"Folia Morphologica (Warsz)"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/jcpe.12935"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.06.015"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2017.12.026"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jchb.2016.04.003"},{"volume-title":"Retrognathia","year":"2020","author":"Jenzer A. C.","key":"e_1_2_9_9_1"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.2319\/052814-376.1"},{"key":"e_1_2_9_11_1","first-page":"399","article-title":"Skeletal malocclusion: A developmental disorder with a life\u2010long morbidity","volume":"6","author":"Joshi N.","year":"2018","journal-title":"Journal of Clinical Medical Research"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2014.08.004"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-051X.2008.01243.x"},{"key":"e_1_2_9_14_1","first-page":"57","article-title":"The bruxism status examination protocol \u2013 Guide to a structured examination","volume":"9","author":"Lange M.","year":"2017","journal-title":"Journal of Craniomandibular Function"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1590\/0103-6440201902367"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep36922"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-3016"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-017-0572-x"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.7"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.0022-0337.1985.49.6.tb01898.x"},{"key":"e_1_2_9_21_1","doi-asserted-by":"publisher","DOI":"10.1111\/joor.12801"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.4317\/jced.51119"},{"volume-title":"National research on oral health: Main results","year":"2010","author":"SB BRAZIL","key":"e_1_2_9_23_1"},{"key":"e_1_2_9_24_1","first-page":"3589","volume-title":"The metabolic and molecular bases of inherited disease","author":"Schuchman E.","year":"2001"},{"key":"e_1_2_9_25_1","first-page":"130","article-title":"A radiographic survey of agenesis of the third molar: A panoramic study","volume":"9","author":"Singh A.","year":"2017","journal-title":"Journal of Forensic Dental Science"},{"volume-title":"Sphingomyelin\u2010cholesterol lipidoses: The Niemann\u2010pick group of diseases","year":"1989","author":"Spence M.","key":"e_1_2_9_26_1"},{"key":"e_1_2_9_27_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0162070"},{"key":"e_1_2_9_28_1","doi-asserted-by":"publisher","DOI":"10.1902\/jop.2004.75.7.1033"},{"key":"e_1_2_9_29_1","doi-asserted-by":"crossref","first-page":"840","DOI":"10.1111\/bjh.13846","article-title":"Type B Niemann\u2010Pick disease","volume":"172","author":"Villarrubia J.","year":"2015","journal-title":"British Journal of Hematology"},{"key":"e_1_2_9_30_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2003.113"},{"key":"e_1_2_9_31_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2004-0887"},{"key":"e_1_2_9_32_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-012-9503-0"},{"volume-title":"Basic methods","year":"1997","author":"WHO, World Health Organization","key":"e_1_2_9_33_1"},{"key":"e_1_2_9_34_1","doi-asserted-by":"publisher","DOI":"10.1530\/JME-17-0298"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61871","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61871","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61871","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,4]],"date-time":"2023-09-04T07:02:09Z","timestamp":1693810929000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61871"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,9,18]]},"references-count":33,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["10.1002\/ajmg.a.61871"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61871","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2020,9,18]]},"assertion":[{"value":"2020-06-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-08-27","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-09-18","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}