{"id":"https://openalex.org/W2566651998","doi":"https://doi.org/10.5005/jp-journals-10005-1395","title":"Crouzon's Syndrome: A Rare Genetic Disorder","display_name":"Crouzon's Syndrome: A Rare Genetic Disorder","publication_year":2016,"publication_date":"2016-10-01","ids":{"openalex":"https://openalex.org/W2566651998","doi":"https://doi.org/10.5005/jp-journals-10005-1395","mag":"2566651998","pmid":"https://pubmed.ncbi.nlm.nih.gov/28127173","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/5233708"},"language":"en","primary_location":{"id":"doi:10.5005/jp-journals-10005-1395","doi":"https://doi.org/10.5005/jp-journals-10005-1395","is_oa":true,"landing_page_url":"https://doi.org/10.5005/jp-journals-10005-1395","pdf_url":"https://doi.org/10.5005/jp-journals-10005-1395","source":{"id":"https://openalex.org/S74028960","display_name":"International Journal of Clinical Pediatric Dentistry","issn_l":"0974-7052","issn":["0974-7052","0975-1904"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1","poland-20","russia-white-list-4"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Clinical Pediatric Dentistry","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://doi.org/10.5005/jp-journals-10005-1395","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5089511402","display_name":"Anupriya Kaushik","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":true,"raw_author_name":"Anupriya Kaushik","raw_affiliation_strings":["Senior Lecturer, Department of Pedodontics and Preventive Dentistry, MN DAV Dental College, Solan, Himachal Pradesh, India","Department of Pedodontics and Preventive Dentistry, MN DAV Dental College, Solan, Himachal Pradesh, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Senior Lecturer, Department of Pedodontics and Preventive Dentistry, MN DAV Dental College, Solan, Himachal Pradesh, India","institution_ids":[]},{"raw_affiliation_string":"Department of Pedodontics and Preventive Dentistry, MN DAV Dental College, Solan, Himachal Pradesh, India","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111386828","display_name":"Hind Pal Bhatia","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I55016150","display_name":"Manav Rachna International Institute of Research and Studies","ror":"https://ror.org/02kf4r633","country_code":"IN","type":"education","lineage":["https://openalex.org/I4405253735","https://openalex.org/I55016150"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Hindpal Bhatia","raw_affiliation_strings":["Professor and Head, Department of Pedodontics and Preventive Dentistry, Manav Rachna Dental College, Faridabad, Haryana, India","Department of Pedodontics and Preventive Dentistry, Manav Rachna Dental College, Faridabad, Haryana, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Professor and Head, Department of Pedodontics and Preventive Dentistry, Manav Rachna Dental College, Faridabad, Haryana, India","institution_ids":[]},{"raw_affiliation_string":"Department of Pedodontics and Preventive Dentistry, Manav Rachna Dental College, Faridabad, Haryana, India","institution_ids":["https://openalex.org/I55016150"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5031233247","display_name":"Naresh Kumar Sharma","orcid":"https://orcid.org/0000-0003-2439-4393","observed_orcids":["https://orcid.org/0000-0003-2439-4393"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Naresh Sharma","raw_affiliation_strings":["Reader, Department of Pedodontics and Preventive Dentistry, Manav Rachna Dental College, Faridabad, Haryana, India","Department of Pedodontics and Preventive Dentistry, MN DAV Dental College, Solan, Himachal Pradesh, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Reader, Department of Pedodontics and Preventive Dentistry, Manav Rachna Dental College, Faridabad, Haryana, India","institution_ids":[]},{"raw_affiliation_string":"Department of Pedodontics and Preventive Dentistry, MN DAV Dental College, Solan, Himachal Pradesh, India","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5089511402"],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.6507,"has_fulltext":true,"cited_by_count":21,"citation_normalized_percentile":{"value":0.6879818,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":99},"biblio":{"volume":"9","issue":"4","first_page":"384","last_page":"387"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11679","display_name":"Craniofacial Disorders and Treatments","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11679","display_name":"Craniofacial Disorders and Treatments","score":0.9990000128746033,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11919","display_name":"dental development and anomalies","score":0.000699999975040555,"subfield":{"id":"https://openalex.org/subfields/3500","display_name":"General Dentistry"},"field":{"id":"https://openalex.org/fields/35","display_name":"Dentistry"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10356","display_name":"Orthodontics and Dentofacial Orthopedics","score":0.0,"subfield":{"id":"https://openalex.org/subfields/3505","display_name":"Orthodontics"},"field":{"id":"https://openalex.org/fields/35","display_name":"Dentistry"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/crouzon-syndrome","display_name":"Crouzon syndrome","score":0.949999988079071},{"id":"https://openalex.org/keywords/fgfr2-mutations","display_name":"FGFR2 mutations","score":0.890999972820282},{"id":"https://openalex.org/keywords/craniosynostosis","display_name":"craniosynostosis","score":0.9879999756813049},{"id":"https://openalex.org/keywords/dentofacial-deformities","display_name":"dentofacial deformities","score":0.8999999761581421},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.7699999809265137},{"id":"https://openalex.org/keywords/pediatric-patients","display_name":"pediatric patients","score":0.5929999947547913}],"concepts":[{"id":"https://openalex.org/C2780639360","wikidata":"https://www.wikidata.org/wiki/Q779250","display_name":"Crouzon syndrome","level":3,"score":0.8208967447280884},{"id":"https://openalex.org/C200544954","wikidata":"https://www.wikidata.org/wiki/Q516389","display_name":"Penetrance","level":4,"score":0.7845430374145508},{"id":"https://openalex.org/C2779302956","wikidata":"https://www.wikidata.org/wiki/Q378183","display_name":"Craniosynostosis","level":2,"score":0.6189156174659729},{"id":"https://openalex.org/C2778908642","wikidata":"https://www.wikidata.org/wiki/Q200779","display_name":"Genetic disorder","level":3,"score":0.5691708326339722},{"id":"https://openalex.org/C92811239","wikidata":"https://www.wikidata.org/wiki/Q20998670","display_name":"Expressivity","level":2,"score":0.5281398892402649},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4895263612270355},{"id":"https://openalex.org/C2779701055","wikidata":"https://www.wikidata.org/wiki/Q929833","display_name":"Rare disease","level":3,"score":0.4733971357345581},{"id":"https://openalex.org/C2779300802","wikidata":"https://www.wikidata.org/wiki/Q13147","display_name":"Skull","level":2,"score":0.451331228017807},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.3857605755329132},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3065025508403778},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.2834688425064087},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2241111695766449},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2054767608642578},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.18582624197006226},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.10391214489936829}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.5005/jp-journals-10005-1395","doi":"https://doi.org/10.5005/jp-journals-10005-1395","is_oa":true,"landing_page_url":"https://doi.org/10.5005/jp-journals-10005-1395","pdf_url":"https://doi.org/10.5005/jp-journals-10005-1395","source":{"id":"https://openalex.org/S74028960","display_name":"International Journal of Clinical Pediatric Dentistry","issn_l":"0974-7052","issn":["0974-7052","0975-1904"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1","poland-20","russia-white-list-4"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Clinical Pediatric Dentistry","raw_type":"journal-article"},{"id":"pmid:28127173","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/28127173","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":"International journal of clinical pediatric dentistry","raw_type":"Case Reports"},{"id":"pmh:oai:pubmedcentral.nih.gov:5233708","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC5233708/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Int J Clin Pediatr Dent","raw_type":"Text"}],"best_oa_location":{"id":"doi:10.5005/jp-journals-10005-1395","doi":"https://doi.org/10.5005/jp-journals-10005-1395","is_oa":true,"landing_page_url":"https://doi.org/10.5005/jp-journals-10005-1395","pdf_url":"https://doi.org/10.5005/jp-journals-10005-1395","source":{"id":"https://openalex.org/S74028960","display_name":"International Journal of Clinical Pediatric Dentistry","issn_l":"0974-7052","issn":["0974-7052","0975-1904"],"is_oa":true,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1","poland-20","russia-white-list-4"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"International Journal of Clinical Pediatric Dentistry","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8048999905586243}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2566651998.pdf","grobid_xml":"https://content.openalex.org/works/W2566651998.grobid-xml"},"referenced_works_count":10,"referenced_works":["https://openalex.org/W1576976592","https://openalex.org/W2012578208","https://openalex.org/W2026959050","https://openalex.org/W2068306726","https://openalex.org/W2070652782","https://openalex.org/W2090315105","https://openalex.org/W2093064905","https://openalex.org/W2336374246","https://openalex.org/W2415378521","https://openalex.org/W4237682555"],"related_works":["https://openalex.org/W4246007164","https://openalex.org/W2046223766","https://openalex.org/W2791912665","https://openalex.org/W4399276602","https://openalex.org/W3123854187","https://openalex.org/W2080869556","https://openalex.org/W2625625292","https://openalex.org/W2777066206","https://openalex.org/W7099312674","https://openalex.org/W2991858244"],"abstract_inverted_index":{"Crouzon's":[0,32,122],"syndrome,":[1,7],"also":[2],"known":[3],"as":[4],"brachial":[5],"arch":[6],"is":[8,27,34,82],"an":[9],"autosomal":[10],"dominant":[11],"disorder":[12],"with":[13,74,86,102],"complete":[14,57],"penetrance":[15],"and":[16],"variable":[17],"expressivity.":[18],"Described":[19],"by":[20,36,84],"a":[21,28,98],"French":[22],"neurosurgeon":[23],"in":[24,38,50,97],"1912,":[25],"it":[26,71],"rare":[29],"genetic":[30],"disorder.":[31],"syndrome":[33],"caused":[35],"mutation":[37],"the":[39,48,51,56,60,75,78,93],"fibroblast":[40],"growth":[41,58,76],"factor":[42],"receptor":[43],"2":[44],"(FGFR2)":[45],"gene.":[46],"Normally,":[47],"sutures":[49,67],"human":[52],"skull":[53],"fuse":[54],"after":[55],"of":[59,65,77,108],"brain,":[61],"but":[62],"if":[63],"any":[64],"these":[66],"close":[68],"early,":[69],"then":[70],"may":[72],"interfere":[73],"brain.":[79],"The":[80],"disease":[81],"characterized":[83],"craniosynostosis,":[85],"associated":[87],"dentofacial":[88],"anomalies.":[89],"This":[90],"report":[91],"describes":[92],"different":[94],"clinical":[95],"features":[96],"10-year-old":[99],"male":[100],"patient,":[101],"particular":[103],"reference":[104],"to":[105],"characteristic":[106],"findings":[107],"this":[109],"syndrome.":[110],"HOW":[111],"TO":[112],"CITE":[113],"THIS":[114],"ARTICLE:":[115],"Kaushik":[116],"A,":[117],"Bhatia":[118],"H,":[119],"Sharma":[120],"N.":[121],"Syndrome:":[123],"A":[124],"Rare":[125],"Genetic":[126],"Disorder.":[127],"Int":[128],"J":[129],"Clin":[130],"Pediatr":[131],"Dent":[132],"2016;9(4):384-387.":[133]},"counts_by_year":[{"year":2026,"cited_by_count":12},{"year":2025,"cited_by_count":2},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2017-01-06T00:00:00"}