{"id":"https://openalex.org/W1998716697","doi":"https://doi.org/10.1259/0007-1285-36-428-562","title":"Wildervanck's Syndrome. Klippel-Feil's Syndrome associated with Deafness and Retraction of the Eyeball","display_name":"Wildervanck's Syndrome. Klippel-Feil's Syndrome associated with Deafness and Retraction of the Eyeball","publication_year":1963,"publication_date":"1963-08-01","ids":{"openalex":"https://openalex.org/W1998716697","doi":"https://doi.org/10.1259/0007-1285-36-428-562","mag":"1998716697","pmid":"https://pubmed.ncbi.nlm.nih.gov/14044853"},"language":"en","primary_location":{"id":"doi:10.1259/0007-1285-36-428-562","doi":"https://doi.org/10.1259/0007-1285-36-428-562","is_oa":false,"landing_page_url":"https://doi.org/10.1259/0007-1285-36-428-562","pdf_url":null,"source":{"id":"https://openalex.org/S142542876","display_name":"British Journal of Radiology","issn_l":"0007-1285","issn":["0007-1285","1748-880X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1","vabb-shw"],"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":"The British Journal of Radiology","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"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/A5026928092","display_name":"G. Everberg","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800392737","display_name":"Aarhus Municipality","ror":"https://ror.org/02wwbem66","country_code":"DK","type":"government","lineage":["https://openalex.org/I2800392737"]}],"countries":["DK"],"is_corresponding":false,"raw_author_name":"G. Everberg","raw_affiliation_strings":["University Ear Clinic and the Neuroradiological Department, Kommunehospitalet, Aarhus, Denmark"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University Ear Clinic and the Neuroradiological Department, Kommunehospitalet, Aarhus, Denmark","institution_ids":["https://openalex.org/I2800392737"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000593593","display_name":"Erling Ratjen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800392737","display_name":"Aarhus Municipality","ror":"https://ror.org/02wwbem66","country_code":"DK","type":"government","lineage":["https://openalex.org/I2800392737"]}],"countries":["DK"],"is_corresponding":false,"raw_author_name":"E. Ratjen","raw_affiliation_strings":["University Ear Clinic and the Neuroradiological Department, Kommunehospitalet, Aarhus, Denmark"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University Ear Clinic and the Neuroradiological Department, Kommunehospitalet, Aarhus, Denmark","institution_ids":["https://openalex.org/I2800392737"]}]},{"author_position":"last","author":{"id":null,"display_name":"H. S\u00f8rensen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800392737","display_name":"Aarhus Municipality","ror":"https://ror.org/02wwbem66","country_code":"DK","type":"government","lineage":["https://openalex.org/I2800392737"]}],"countries":["DK"],"is_corresponding":false,"raw_author_name":"H. S\u00f8rensen","raw_affiliation_strings":["University Ear Clinic and the Neuroradiological Department, Kommunehospitalet, Aarhus, Denmark"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University Ear Clinic and the Neuroradiological Department, Kommunehospitalet, Aarhus, Denmark","institution_ids":["https://openalex.org/I2800392737"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I2800392737"],"apc_list":{"value":2279,"currency":"GBP","value_usd":3005},"apc_paid":null,"fwci":4.7704,"has_fulltext":false,"cited_by_count":56,"citation_normalized_percentile":{"value":0.93210561,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"36","issue":"428","first_page":"562","last_page":"567"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11833","display_name":"Spinal Dysraphism and Malformations","score":0.5145999789237976,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/T11833","display_name":"Spinal Dysraphism and Malformations","score":0.5145999789237976,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"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/T11679","display_name":"Craniofacial Disorders and Treatments","score":0.3285999894142151,"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":0.1080000028014183,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/klippel-feil-syndrome","display_name":"Klippel-Feil syndrome","score":0.9769999980926514},{"id":"https://openalex.org/keywords/congenital-hearing-loss","display_name":"congenital hearing loss","score":0.796999990940094},{"id":"https://openalex.org/keywords/cervical-fusion","display_name":"cervical spine fusion","score":0.722000002861023},{"id":"https://openalex.org/keywords/familial-occurrence","display_name":"familial occurrence","score":0.5849999785423279},{"id":"https://openalex.org/keywords/mode-of-inheritance","display_name":"mode of inheritance","score":0.765999972820282},{"id":"https://openalex.org/keywords/spina-bifida","display_name":"spina bifida","score":0.781000018119812}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8182011842727661},{"id":"https://openalex.org/C2776639527","wikidata":"https://www.wikidata.org/wiki/Q1774751","display_name":"Klippel\u2013Feil syndrome","level":2,"score":0.7212453484535217},{"id":"https://openalex.org/C2778478650","wikidata":"https://www.wikidata.org/wiki/Q844717","display_name":"Spina bifida","level":2,"score":0.5982488989830017},{"id":"https://openalex.org/C2781179581","wikidata":"https://www.wikidata.org/wiki/Q2857712","display_name":"Family history","level":2,"score":0.42948779463768005},{"id":"https://openalex.org/C2781149206","wikidata":"https://www.wikidata.org/wiki/Q757722","display_name":"Atresia","level":2,"score":0.4120400547981262},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.3979329466819763},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.3569766879081726}],"mesh":[{"descriptor_ui":"D000013","descriptor_name":"Congenital Abnormalities","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D003638","descriptor_name":"Deafness","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005123","descriptor_name":"Eye","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006330","descriptor_name":"Heart Defects, Congenital","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006344","descriptor_name":"Heart Septal Defects, Atrial","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007714","descriptor_name":"Klippel-Feil Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014054","descriptor_name":"Tomography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D038061","descriptor_name":"Lower Extremity Deformities, Congenital","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D038062","descriptor_name":"Upper Extremity Deformities, Congenital","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1259/0007-1285-36-428-562","doi":"https://doi.org/10.1259/0007-1285-36-428-562","is_oa":false,"landing_page_url":"https://doi.org/10.1259/0007-1285-36-428-562","pdf_url":null,"source":{"id":"https://openalex.org/S142542876","display_name":"British Journal of Radiology","issn_l":"0007-1285","issn":["0007-1285","1748-880X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1","vabb-shw"],"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":"The British Journal of Radiology","raw_type":"journal-article"},{"id":"pmid:14044853","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/14044853","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":"The British journal of radiology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.8999999761581421,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":7,"referenced_works":["https://openalex.org/W1492652948","https://openalex.org/W1575727381","https://openalex.org/W1995180029","https://openalex.org/W2011403547","https://openalex.org/W2064613272","https://openalex.org/W2133861916","https://openalex.org/W2401569355"],"related_works":["https://openalex.org/W3144861425","https://openalex.org/W2050166051","https://openalex.org/W2042845141","https://openalex.org/W2418979313","https://openalex.org/W2604204241","https://openalex.org/W4242106463","https://openalex.org/W4404970949","https://openalex.org/W2913631149","https://openalex.org/W2321409045","https://openalex.org/W4393073578"],"abstract_inverted_index":{"In":[0],"1912":[1],"Klippel":[2],"and":[3,67,170,216,222,225,227],"Feil":[4],"described":[5,108,213],"a":[6,23,50,83,151,184],"syndrome":[7,41],"characterised":[8],"primarily":[9],"by":[10,204,214],"the":[11,14,45,48,53,61,105,119,163,179,233],"absence":[12],"of":[13,22,26,47,52,60,70,79,85,88,94,104,112,118,127,145,154,178,187,202,246],"cervical":[15],"spine":[16],"which":[17],"was":[18,100,183],"made":[19],"up":[20,166],"merely":[21],"skeletal":[24],"mass":[25],"fused":[27],"vertebrae.":[28],"Since":[29],"that":[30,174],"time,":[31],"about":[32,176],"200":[33],"similar":[34],"cases":[35,78,181],"have":[36,55],"been":[37,212],"reported":[38],"as":[39,64,109],"Klippel-Feil's":[40],"(KF).":[42],"Apart":[43],"from":[44,192],"shortness":[46],"neck,":[49,159],"number":[51,84],"patients":[54,106,130,148],"had":[56,115,123,150],"other":[57,71,140],"abnormalities,":[58],"either":[59],"spine,":[62],"such":[63],"spina":[65,160],"bifida":[66],"meningocele,":[68],"or":[69],"organs.":[72],"Jalladeau,":[73],"in":[74,92,139,175],"1936,":[75],"reviewed":[76],"20":[77,129,147],"KF":[80,194,203],"associated":[81,98],"with":[82],"congenital":[86,188],"malformations":[87,190],"various":[89],"kinds.":[90],"Second":[91],"order":[93],"frequency":[95],"among":[96,230],"these":[97,128],"anomalies":[99],"deafness,":[101],"nearly":[102],"one-third":[103],"being":[107],"deaf-mute.":[110],"(One":[111],"them,":[113],"who":[114],"bilateral":[116],"atresia":[117],"external":[120],"auditory":[121],"meatus":[122],"some":[124],"hearing.)":[125],"Eighteen":[126],"were":[131],"females.":[132],"This":[133],"female":[134],"preponderance":[135],"is":[136,238],"also":[137,149],"apparent":[138],"reports":[141,236],"on":[142],"KF.":[143],"One":[144],"Jalladeau's":[146],"family":[152,185],"history":[153,186],"spinal":[155],"diseases":[156],"(kyphosis,":[157],"short":[158],"bifida).":[161],"Reviewing":[162],"literature":[164],"available":[165],"to":[167,195,207,240],"1956,":[168],"Gedda":[169],"Iannaccone":[171],"(1956)":[172],"found":[173],"one-fifth":[177],"published":[180,235],"there":[182],"cranio-vertebral":[189],"ranging":[191],"classical":[193],"occult":[196],"vertebral":[197],"scisis.":[198],"A":[199],"familial":[200],"occurence":[201],"itself":[205],"appears":[206],"be":[208],"rare.":[209],"It":[210],"has":[211],"Sicard":[215],"Lermoyez":[217],"(1923),":[218],"Demeler":[219],"(1933),":[220],"Hangarter":[221],"Dieker":[223],"(1937)":[224],"Jarcho":[226],"Levin":[228],"(1938)":[229],"others.":[231],"From":[232],"few":[234],"it":[237],"impossible":[239],"draw":[241],"definite":[242],"conclusions":[243],"regarding":[244],"mode":[245],"inheritance.":[247]},"counts_by_year":[{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}