{"id":"https://openalex.org/W117235121","doi":null,"title":"31 cases with oculoauriculovertebral dysplasia (Goldenhar syndrome): clinical, neuroradiologic, audiologic and cytogenetic findings.","display_name":"31 cases with oculoauriculovertebral dysplasia (Goldenhar syndrome): clinical, neuroradiologic, audiologic and cytogenetic findings.","publication_year":2007,"publication_date":"2007-01-01","ids":{"openalex":"https://openalex.org/W117235121","mag":"117235121","pmid":"https://pubmed.ncbi.nlm.nih.gov/18019368"},"language":"en","primary_location":{"id":"pmid:18019368","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18019368","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":"Genetic counseling (Geneva, Switzerland)","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["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/A5113530963","display_name":"O Engiz","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I66514158","display_name":"Hacettepe University","ror":"https://ror.org/04kwvgz42","country_code":"TR","type":"education","lineage":["https://openalex.org/I66514158"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"O Engiz","raw_affiliation_strings":["Department of Clinical Genetics, Hacettepe University Faculty of Medicine, Ihsan Do\u011framaci Children's Hospital, Ankara, Turkey"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics, Hacettepe University Faculty of Medicine, Ihsan Do\u011framaci Children's Hospital, Ankara, Turkey","institution_ids":["https://openalex.org/I66514158"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5028459341","display_name":"S Balci","orcid":"https://orcid.org/0009-0003-7736-6844","observed_orcids":["https://orcid.org/0009-0003-7736-6844"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S Balci","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"M Unsal","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M Unsal","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112359743","display_name":"S. Ozer","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S Ozer","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023607130","display_name":"Kader Karl\u0131 O\u011fuz","orcid":"https://orcid.org/0000-0002-3385-4665","observed_orcids":["https://orcid.org/0000-0002-3385-4665","https://orcid.org/0000-0002-6404-4403"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"K K Oguz","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5079701332","display_name":"Dilek Akta\u015f","orcid":"https://orcid.org/0000-0001-7932-0434","observed_orcids":["https://orcid.org/0000-0001-7932-0434"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"D Aktas","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":5.2515,"has_fulltext":false,"cited_by_count":59,"citation_normalized_percentile":{"value":0.94979023,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":93,"max":99},"biblio":{"volume":"18","issue":"3","first_page":"277","last_page":"88"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11679","display_name":"Craniofacial Disorders and Treatments","score":0.7339000105857849,"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":0.7339000105857849,"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/T13738","display_name":"Congenital Ear and Nasal Anomalies","score":0.20980000495910645,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics (clinical)"},"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/T11866","display_name":"Reconstructive Facial Surgery Techniques","score":0.017999999225139618,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/goldenhar-syndrome","display_name":"Goldenhar syndrome","score":1.0},{"id":"https://openalex.org/keywords/preauricular-skin-tags","display_name":"preauricular skin tags","score":0.875},{"id":"https://openalex.org/keywords/microtia","display_name":"microtia","score":0.9800000190734863},{"id":"https://openalex.org/keywords/craniofacial-microsomia","display_name":"hemifacial microsomia","score":0.9950000047683716},{"id":"https://openalex.org/keywords/epibulbar-dermoid","display_name":"epibulbar dermoid","score":0.9210000038146973},{"id":"https://openalex.org/keywords/vertebral-anomalies","display_name":"vertebral anomalies","score":0.9929999709129333},{"id":"https://openalex.org/keywords/cardiac-abnormalities","display_name":"cardiac anomalies","score":0.949999988079071},{"id":"https://openalex.org/keywords/genitourinary-anomalies","display_name":"genitourinary anomalies","score":0.953000009059906},{"id":"https://openalex.org/keywords/central-nervous-system-abnormalities","display_name":"central nervous system malformations","score":0.9819999933242798},{"id":"https://openalex.org/keywords/chromosomal-abnormalities","display_name":"chromosomal abnormalities","score":0.574999988079071},{"id":"https://openalex.org/keywords/catch-22","display_name":"Catch-22","score":0.7170000076293945},{"id":"https://openalex.org/keywords/intracytoplasmic-sperm-injection","display_name":"intracytoplasmic sperm injection","score":0.8230000138282776},{"id":"https://openalex.org/keywords/familial-recurrence","display_name":"familial recurrence","score":0.48500001430511475},{"id":"https://openalex.org/keywords/cytogenetic-diagnosis","display_name":"cytogenetic diagnosis","score":0.5569999814033508}],"concepts":[{"id":"https://openalex.org/C2776561620","wikidata":"https://www.wikidata.org/wiki/Q5711576","display_name":"Hemifacial microsomia","level":3,"score":0.8096237182617188},{"id":"https://openalex.org/C2778048899","wikidata":"https://www.wikidata.org/wiki/Q769988","display_name":"Goldenhar syndrome","level":2,"score":0.7879023551940918},{"id":"https://openalex.org/C2776689041","wikidata":"https://www.wikidata.org/wiki/Q1759560","display_name":"Microtia","level":2,"score":0.723366379737854},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7114976644515991},{"id":"https://openalex.org/C2781374659","wikidata":"https://www.wikidata.org/wiki/Q1459821","display_name":"Holoprosencephaly","level":4,"score":0.45608681440353394},{"id":"https://openalex.org/C2775894508","wikidata":"https://www.wikidata.org/wiki/Q1128996","display_name":"Dysplasia","level":2,"score":0.45540010929107666},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.3286302089691162},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.31860417127609253},{"id":"https://openalex.org/C2781245598","wikidata":"https://www.wikidata.org/wiki/Q5182134","display_name":"Craniofacial","level":2,"score":0.2877097725868225},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.19138005375862122},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.12884870171546936},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.10942423343658447},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.0},{"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":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","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":"D002675","descriptor_name":"Child, Preschool","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":"D006053","descriptor_name":"Goldenhar Syndrome","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D006053","descriptor_name":"Goldenhar Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006053","descriptor_name":"Goldenhar Syndrome","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","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":"D011859","descriptor_name":"Radiography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:18019368","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18019368","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":"Genetic counseling (Geneva, Switzerland)","raw_type":"Journal Article"},{"id":"mag:117235121","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18019368","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.98580002784729,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W3205675066","https://openalex.org/W4241195702","https://openalex.org/W4229365604","https://openalex.org/W4408481569","https://openalex.org/W4386201235","https://openalex.org/W2132732541","https://openalex.org/W2599419154","https://openalex.org/W3096788833","https://openalex.org/W7023369375","https://openalex.org/W115352199"],"abstract_inverted_index":{"Goldenhar":[0,273],"syndrome":[1,31],"(GS)":[2],"or":[3],"oculoauriculovertebral":[4],"dysplasia":[5],"(OAVD)":[6],"is":[7,163],"characterized":[8],"by":[9,248],"pre-auricular":[10,85],"skin":[11,86],"tags,":[12],"microtia,":[13],"facial":[14],"asymmetry,":[15],"ocular":[16],"abnormalities":[17],"and":[18,24,57,65,94,121,158,189,212,239,256],"vertebral":[19],"anomalies":[20,99],"of":[21,29,51,60,79,104,177],"different":[22,236],"size":[23],"shape.":[25],"The":[26,81],"phenotypical":[27],"findings":[28,59],"this":[30],"are":[32,169],"variable":[33],"due":[34,197],"to":[35,72,198],"heterogenous":[36],"aetiology.":[37],"For":[38],"that":[39,165],"reason,":[40],"the":[41,55,76,105,141,150],"physician":[42],"sometimes":[43],"faces":[44],"difficulty":[45],"when":[46,259],"making":[47],"a":[48,114,193,199,225],"definite":[49],"diagnosis":[50,78],"OAVD.":[52,263],"We":[53,173],"reviewed":[54],"clinical":[56,77],"laboratory":[58],"31":[61,142],"patients":[62,145,233,261],"(15":[63],"boys":[64],"16":[66,73],"girls)":[67],"aged":[68],"from":[69,149],"1":[70],"day":[71],"years":[74],"with":[75,146,186,222,224,235,262,272],"GS.":[80,172],"characteristic":[82],"features":[83,238],"were":[84,100,109,130],"tags":[87],"(90%),":[88],"microtia":[89],"(52%),":[90],"hemifacial":[91],"microsomia":[92],"(77%)":[93],"epibulbar":[95],"dermoids":[96],"(39%).":[97],"Vertebral":[98],"noted":[101,118],"in":[102,111,119,127,171,208,219,269],"70%":[103],"patients.":[106,143,179],"Cardiac":[107],"malformations":[108,126],"found":[110],"39%":[112],"while":[113],"genitourinary":[115],"anomaly":[116],"was":[117,206],"23%":[120],"various":[122],"central":[123],"nervous":[124],"system":[125],"47%.":[128],"There":[129],"3":[131],"pregnancies":[132],"following":[133],"an":[134],"intracytoplasmic":[135],"sperm":[136],"injection":[137],"(ICSI)":[138],"technique":[139],"among":[140],"Two":[144],"GS":[147],"came":[148],"same":[151],"family.":[152],"Their":[153],"relatives":[154],"had":[155,192],"hydrocephaly,":[156],"myelomeningocele":[157],"neural":[159],"tube":[160],"defects.":[161],"It":[162],"known":[164],"some":[166],"chromosomal":[167],"aberrations":[168],"seen":[170],"performed":[174,268],"chromosome":[175],"analysis":[176,218,265],"29":[178],"Among":[180],"these":[181],"cases,":[182],"only":[183],"one":[184],"patient":[185,271],"severe":[187],"mental":[188],"motor":[190],"retardation":[191],"47,XX,+der(22)t(11,22)(q23;":[194],"q11":[195],"karyotype":[196],"maternal":[200,213],"balanced":[201],"translocation":[202,205],"t(11;22)(q23;q11).":[203],"This":[204],"demonstrated":[207],"her":[209],"sister,":[210],"brother":[211],"uncle.":[214],"Additionally":[215],"CATCH":[216,226],"22":[217,227],"13":[220],"cases":[221],"OAVD":[223,232],"phenotype":[228],"revealed":[229],"no":[230],"deletion.":[231],"present":[234],"morphologic":[237],"systemic":[240],"manifestations.":[241],"A":[242],"multidisciplinary":[243],"approach":[244],"should":[245,266],"be":[246,267],"undertaken":[247],"departments":[249],"such":[250],"as":[251],"pediatric":[252],"cardiology,":[253],"audiology,":[254],"ophthalmology":[255],"plastic":[257],"surgery":[258],"evaluating":[260],"Chromosome":[264],"every":[270],"syndrome.":[274]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2022,"cited_by_count":3},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":7},{"year":2015,"cited_by_count":6},{"year":2014,"cited_by_count":4},{"year":2013,"cited_by_count":7},{"year":2012,"cited_by_count":2}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}