{"id":"https://openalex.org/W4409508317","doi":"https://doi.org/10.1002/ajmg.a.64090","title":"Dentofacial Findings and Management of two Pediatric Patients With Bainbridge\u2010Ropers Syndrome: A Case Report","display_name":"Dentofacial Findings and Management of two Pediatric Patients With Bainbridge\u2010Ropers Syndrome: A Case Report","publication_year":2025,"publication_date":"2025-04-16","ids":{"openalex":"https://openalex.org/W4409508317","doi":"https://doi.org/10.1002/ajmg.a.64090","pmid":"https://pubmed.ncbi.nlm.nih.gov/40237215"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.a.64090","doi":"https://doi.org/10.1002/ajmg.a.64090","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.64090","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-1","ki-jl-1","medline","norway-1"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5061463890","display_name":"Asl\u0131 A\u015f\u0131k","orcid":"https://orcid.org/0000-0003-4865-3249","observed_orcids":["https://orcid.org/0000-0003-4865-3249"]},"institutions":[{"id":"https://openalex.org/I41641357","display_name":"Ege University","ror":"https://ror.org/02eaafc18","country_code":"TR","type":"education","lineage":["https://openalex.org/I41641357"]},{"id":"https://openalex.org/I4387152873","display_name":"\u0130zmir T\u0131naztepe \u00dcniversitesi","ror":"https://ror.org/04a7vn235","country_code":"TR","type":"education","lineage":["https://openalex.org/I4387152873"]}],"countries":["TR"],"is_corresponding":true,"raw_author_name":"Asl\u0131 A\u015f\u0131k","raw_affiliation_strings":["Department of Pediatric Dentistry Faculty of Dentistry, Ege University  \u0130zmir Turkey","Department of Pediatric Dentistry Faculty of Dentistry, Izmir T\u0131naztepe University  \u0130zmir Turkey"],"raw_orcid":"https://orcid.org/0000-0003-4865-3249","affiliations":[{"raw_affiliation_string":"Department of Pediatric Dentistry Faculty of Dentistry, Ege University  \u0130zmir Turkey","institution_ids":["https://openalex.org/I41641357"]},{"raw_affiliation_string":"Department of Pediatric Dentistry Faculty of Dentistry, Izmir T\u0131naztepe University  \u0130zmir Turkey","institution_ids":["https://openalex.org/I4387152873"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5013434230","display_name":"Ezgi Cansu F\u0131r\u0131nc\u0131o\u011fullar\u0131","orcid":"https://orcid.org/0000-0002-0355-2842","observed_orcids":["https://orcid.org/0000-0002-0355-2842"]},"institutions":[{"id":"https://openalex.org/I136199984","display_name":"Harvard University","ror":"https://ror.org/03vek6s52","country_code":"US","type":"education","lineage":["https://openalex.org/I136199984"]},{"id":"https://openalex.org/I41641357","display_name":"Ege University","ror":"https://ror.org/02eaafc18","country_code":"TR","type":"education","lineage":["https://openalex.org/I41641357"]}],"countries":["TR","US"],"is_corresponding":false,"raw_author_name":"Ezgi Cansu F\u0131r\u0131nc\u0131o\u011fullar\u0131","raw_affiliation_strings":["Department of Orthodontics Faculty of Dentistry, Ege University  \u0130zmir Turkey","Department of Orthodontics School of Dental Medicine, Harvard University  Boston Massachusetts USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthodontics Faculty of Dentistry, Ege University  \u0130zmir Turkey","institution_ids":["https://openalex.org/I41641357"]},{"raw_affiliation_string":"Department of Orthodontics School of Dental Medicine, Harvard University  Boston Massachusetts USA","institution_ids":["https://openalex.org/I136199984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064260470","display_name":"Enise Avc\u0131 Durmu\u015falio\u011flu","orcid":"https://orcid.org/0000-0002-0582-8881","observed_orcids":["https://orcid.org/0000-0002-0582-8881"]},"institutions":[{"id":"https://openalex.org/I41641357","display_name":"Ege University","ror":"https://ror.org/02eaafc18","country_code":"TR","type":"education","lineage":["https://openalex.org/I41641357"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Enise Avc\u0131 Durmu\u015falio\u011flu","raw_affiliation_strings":["Department of Pediatric Genetics Faculty of Medicine, Ege University  \u0130zmir Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Genetics Faculty of Medicine, Ege University  \u0130zmir Turkey","institution_ids":["https://openalex.org/I41641357"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071690944","display_name":"Dil\u015fah \u00c7o\u011fulu","orcid":"https://orcid.org/0000-0002-3156-9801","observed_orcids":["https://orcid.org/0000-0002-3156-9801"]},"institutions":[{"id":"https://openalex.org/I41641357","display_name":"Ege University","ror":"https://ror.org/02eaafc18","country_code":"TR","type":"education","lineage":["https://openalex.org/I41641357"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Dil\u015fah \u00c7o\u011fulu","raw_affiliation_strings":["Department of Pediatric Dentistry Faculty of Dentistry, Ege University  \u0130zmir Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Dentistry Faculty of Dentistry, Ege University  \u0130zmir Turkey","institution_ids":["https://openalex.org/I41641357"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5037300070","display_name":"Tahir At\u0131k","orcid":"https://orcid.org/0000-0002-1142-3872","observed_orcids":["https://orcid.org/0000-0002-1142-3872"]},"institutions":[{"id":"https://openalex.org/I41641357","display_name":"Ege University","ror":"https://ror.org/02eaafc18","country_code":"TR","type":"education","lineage":["https://openalex.org/I41641357"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Tahir Atik","raw_affiliation_strings":["Department of Pediatric Genetics Faculty of Medicine, Ege University  \u0130zmir Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatric Genetics Faculty of Medicine, Ege University  \u0130zmir Turkey","institution_ids":["https://openalex.org/I41641357"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089514382","display_name":"Asl\u0131han Ertan Erdin\u00e7","orcid":"https://orcid.org/0000-0002-8178-9474","observed_orcids":["https://orcid.org/0000-0002-8178-9474"]},"institutions":[{"id":"https://openalex.org/I41641357","display_name":"Ege University","ror":"https://ror.org/02eaafc18","country_code":"TR","type":"education","lineage":["https://openalex.org/I41641357"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Asl\u0131han Mediha Erdin\u00e7","raw_affiliation_strings":["Department of Orthodontics Faculty of Dentistry, Ege University  \u0130zmir Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthodontics Faculty of Dentistry, Ege University  \u0130zmir Turkey","institution_ids":["https://openalex.org/I41641357"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5053124932","display_name":"\u00d6zg\u00fcr \u00c7o\u011fulu","orcid":"https://orcid.org/0000-0002-9037-5599","observed_orcids":["https://orcid.org/0000-0002-9037-5599"]},"institutions":[{"id":"https://openalex.org/I41641357","display_name":"Ege University","ror":"https://ror.org/02eaafc18","country_code":"TR","type":"education","lineage":["https://openalex.org/I41641357"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"Ozgur Cogulu","raw_affiliation_strings":["Department of Pediatric Genetics Faculty of Medicine, Ege University  \u0130zmir Turkey"],"raw_orcid":"https://orcid.org/0000-0002-9037-5599","affiliations":[{"raw_affiliation_string":"Department of Pediatric Genetics Faculty of Medicine, Ege University  \u0130zmir Turkey","institution_ids":["https://openalex.org/I41641357"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5061463890"],"corresponding_institution_ids":["https://openalex.org/I41641357","https://openalex.org/I4387152873"],"apc_list":{"value":4710,"currency":"USD","value_usd":4710},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.04507087,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"197","issue":"8","first_page":"e64090","last_page":"e64090"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11919","display_name":"dental development and anomalies","score":0.8389000296592712,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11919","display_name":"dental development and anomalies","score":0.8389000296592712,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11374","display_name":"Cleft Lip and Palate Research","score":0.06960000097751617,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11679","display_name":"Craniofacial Disorders and Treatments","score":0.025800000876188278,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/high-arched-palate","display_name":"high-arched palate","score":0.9639999866485596},{"id":"https://openalex.org/keywords/posterior-crossbite","display_name":"posterior crossbite","score":0.753000020980835},{"id":"https://openalex.org/keywords/open-bite","display_name":"open bite","score":0.9350000023841858},{"id":"https://openalex.org/keywords/trigonocephaly","display_name":"trigonocephaly","score":0.9559999704360962},{"id":"https://openalex.org/keywords/strabismus","display_name":"strabismus","score":0.8199999928474426},{"id":"https://openalex.org/keywords/hirsutism","display_name":"hirsutism","score":0.7549999952316284},{"id":"https://openalex.org/keywords/developmental-delay","display_name":"developmental delay","score":0.7409999966621399},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.9620000123977661},{"id":"https://openalex.org/keywords/interceptive-orthodontics","display_name":"interceptive orthodontics","score":0.7400000095367432},{"id":"https://openalex.org/keywords/pit-and-fissure-sealants","display_name":"pit and fissure sealants","score":0.9670000076293945},{"id":"https://openalex.org/keywords/fluoride-varnish","display_name":"fluoride varnish","score":0.9129999876022339},{"id":"https://openalex.org/keywords/mouth-breathing","display_name":"mouth breathing","score":0.5860000252723694},{"id":"https://openalex.org/keywords/pediatric-dental-management","display_name":"pediatric dental management","score":0.6190000176429749}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.862011194229126},{"id":"https://openalex.org/C527108885","wikidata":"https://www.wikidata.org/wiki/Q835153","display_name":"Physical examination","level":2,"score":0.6353771090507507},{"id":"https://openalex.org/C2781194658","wikidata":"https://www.wikidata.org/wiki/Q622427","display_name":"Ptosis","level":2,"score":0.48641061782836914},{"id":"https://openalex.org/C2781245598","wikidata":"https://www.wikidata.org/wiki/Q5182134","display_name":"Craniofacial","level":2,"score":0.44048595428466797},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.43931883573532104},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.26107215881347656},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019066","descriptor_name":"Facies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019066","descriptor_name":"Facies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019066","descriptor_name":"Facies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019066","descriptor_name":"Facies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D063169","descriptor_name":"Dentofacial Deformities","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D063169","descriptor_name":"Dentofacial Deformities","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D063169","descriptor_name":"Dentofacial Deformities","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D063169","descriptor_name":"Dentofacial Deformities","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D063169","descriptor_name":"Dentofacial Deformities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D063169","descriptor_name":"Dentofacial Deformities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D063169","descriptor_name":"Dentofacial Deformities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D063169","descriptor_name":"Dentofacial Deformities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D065886","descriptor_name":"Neurodevelopmental Disorders","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D065886","descriptor_name":"Neurodevelopmental Disorders","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D065886","descriptor_name":"Neurodevelopmental Disorders","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D065886","descriptor_name":"Neurodevelopmental Disorders","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/ajmg.a.64090","doi":"https://doi.org/10.1002/ajmg.a.64090","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.64090","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","doyens","jufo-1","ki-jl-1","medline","norway-1"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics Part A","raw_type":"journal-article"},{"id":"pmid:40237215","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/40237215","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American journal of medical genetics. Part A","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.98580002784729,"id":"https://metadata.un.org/sdg/3"}],"sustainable_development_goals_aurora":[{"display_name":"Quality education","score":0.5299999713897705,"id":"https://metadata.un.org/sdg/4"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":18,"referenced_works":["https://openalex.org/W1975219604","https://openalex.org/W2051978340","https://openalex.org/W2117438410","https://openalex.org/W2118870834","https://openalex.org/W2210981591","https://openalex.org/W2339006900","https://openalex.org/W2559101983","https://openalex.org/W2578972377","https://openalex.org/W2606058630","https://openalex.org/W2759386396","https://openalex.org/W2782289439","https://openalex.org/W2795302512","https://openalex.org/W2885275627","https://openalex.org/W2944994613","https://openalex.org/W2946997825","https://openalex.org/W4206373289","https://openalex.org/W4244947133","https://openalex.org/W4392286649"],"related_works":["https://openalex.org/W2899084033","https://openalex.org/W2748952813","https://openalex.org/W3031052312","https://openalex.org/W4389568370","https://openalex.org/W3032375762","https://openalex.org/W1995515455","https://openalex.org/W2080531066","https://openalex.org/W3108674512","https://openalex.org/W1506200166","https://openalex.org/W1489783725"],"abstract_inverted_index":{"Bainbridge-Ropers":[0],"Syndrome(BPRS)":[1],"is":[2,36],"a":[3,39,76,84,130,143,170,214],"rare":[4],"autosomal":[5],"dominant":[6],"genetic":[7],"disorder":[8,226],"resulting":[9],"from":[10],"heterozygous":[11],"mutations":[12],"in":[13,32],"the":[14,33,90,115,187,197,219,225],"ASXL3(Additional":[15],"Sex":[16],"Comb-Like":[17],"3)":[18],"gene":[19],"located":[20],"on":[21],"chromosome":[22],"18q12.":[23],"To":[24],"date,":[25],"only":[26],"45":[27],"cases":[28],"have":[29],"been":[30],"documented":[31],"literature.":[34],"BPRS":[35,206],"characterized":[37],"by":[38],"range":[40],"of":[41,94,189,199,224],"clinical":[42],"features,":[43,51],"including":[44,186],"feeding":[45],"difficulties,":[46,122,152],"hypotonia,":[47],"distinctive":[48],"dysmorphic":[49],"facial":[50],"high-arched":[52,131,171],"palate,":[53,132,172],"and":[54,74,97,110,123,137,153,164,175,196,210,221],"intellectual":[55,125],"disability.":[56,126],"This":[57],"case":[58],"report":[59],"aims":[60],"to":[61,89,119,217],"present":[62],"two":[63],"pediatric":[64],"patients":[65],"diagnosed":[66,204],"with":[67,92,148,205],"BPRS,":[68],"emphasize":[69],"newly":[70],"identified":[71,129],"oro-dental":[72],"manifestations,":[73],"propose":[75],"comprehensive":[77],"dental":[78,182,211],"management":[79,212],"plan.":[80],"In":[81,140],"Case":[82,141],"#1,":[83],"10-year-old":[85],"female":[86,145],"patient":[87,116,146],"presented":[88,147],"clinic":[91],"concerns":[93],"developmental":[95,149],"delay":[96],"spinal":[98],"deformity.":[99],"Physical":[100,156],"examination":[101,128,168],"revealed":[102,169],"trigonocephaly,":[103,159],"thoracic":[104],"kyphosis,":[105],"strabismus,":[106,162],"hirsutism,":[107,163],"bitemporal":[108,160],"narrowing,":[109,161],"bilateral":[111],"coxa":[112],"valga.":[113],"Additionally,":[114],"exhibited":[117],"failure":[118],"thrive,":[120],"language":[121,151],"mild":[124],"Oral":[127,167],"fibrotic":[133],"frenulum,":[134],"narrow":[135,173],"maxilla,":[136,174],"posterior":[138],"crossbite.":[139],"#2,":[142],"6-year-old":[144],"delay,":[150],"mouth":[154],"breathing.":[155],"findings":[157],"included":[158],"arched":[165],"eyebrows.":[166],"open":[176],"bite.":[177],"For":[178],"both":[179],"cases,":[180],"preventive":[181],"interventions":[183],"were":[184],"implemented,":[185],"application":[188],"fissure":[190],"sealants,":[191],"fluoride":[192],"varnishes,":[193],"dietary":[194],"regulation,":[195],"use":[198],"interceptive":[200],"orthodontic":[201],"appliances.":[202],"Children":[203],"require":[207],"ongoing":[208],"medical":[209],"through":[213],"multidisciplinary":[215],"approach":[216],"address":[218],"complex":[220],"varied":[222],"manifestations":[223],"effectively.":[227]},"counts_by_year":[],"updated_date":"2026-09-26T08:19:03.415552","created_date":"2025-10-10T00:00:00"}