{"id":"https://openalex.org/W604725154","doi":null,"title":"Cartilage-Hair Hypoplasia \u2013 Anauxetic Dysplasia Spectrum Disorders","display_name":"Cartilage-Hair Hypoplasia \u2013 Anauxetic Dysplasia Spectrum Disorders","publication_year":2015,"publication_date":"2015-08-13","ids":{"openalex":"https://openalex.org/W604725154","mag":"604725154"},"language":"en","primary_location":{"id":"mag:604725154","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22420014/","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null},"volume":null,"type":"article","is_traditional":true,"indexed_in":[],"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/A5064764888","display_name":"Outi M\u00e4kitie","orcid":"https://orcid.org/0000-0002-4547-001X","observed_orcids":["https://orcid.org/0000-0002-4547-001X"]},"institutions":[{"id":"https://openalex.org/I133731052","display_name":"University of Helsinki","ror":"https://ror.org/040af2s02","country_code":"FI","type":"education","lineage":["https://openalex.org/I133731052"]},{"id":"https://openalex.org/I2800394112","display_name":"Helsinki University Hospital","ror":"https://ror.org/02e8hzf44","country_code":"FI","type":"healthcare","lineage":["https://openalex.org/I2800394112","https://openalex.org/I4210166427"]},{"id":"https://openalex.org/I4210090554","display_name":"Helsinki Children's Hospital","ror":"https://ror.org/00dqfzf20","country_code":"FI","type":"healthcare","lineage":["https://openalex.org/I2800394112","https://openalex.org/I4210090554","https://openalex.org/I4210166427"]},{"id":"https://openalex.org/I4210165462","display_name":"Folkh\u00e4lsans Forskningscentrum","ror":"https://ror.org/05xznzw56","country_code":"FI","type":"government","lineage":["https://openalex.org/I4210165462"]}],"countries":["FI"],"is_corresponding":false,"raw_author_name":"Outi M\u00e4kitie","raw_affiliation_strings":["Children's Hospital, University of Helsinki and Helsinki University Hospital, Folkh\u00e4lsan Research Center, Helsinki, Finland"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital, University of Helsinki and Helsinki University Hospital, Folkh\u00e4lsan Research Center, Helsinki, Finland","institution_ids":["https://openalex.org/I133731052","https://openalex.org/I2800394112","https://openalex.org/I4210090554","https://openalex.org/I4210165462"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5091868299","display_name":"Svetlana Vakkilainen","orcid":"https://orcid.org/0000-0002-4573-3297","observed_orcids":["https://orcid.org/0000-0002-4573-3297"]},"institutions":[{"id":"https://openalex.org/I133731052","display_name":"University of Helsinki","ror":"https://ror.org/040af2s02","country_code":"FI","type":"education","lineage":["https://openalex.org/I133731052"]},{"id":"https://openalex.org/I2800394112","display_name":"Helsinki University Hospital","ror":"https://ror.org/02e8hzf44","country_code":"FI","type":"healthcare","lineage":["https://openalex.org/I2800394112","https://openalex.org/I4210166427"]},{"id":"https://openalex.org/I4210090554","display_name":"Helsinki Children's Hospital","ror":"https://ror.org/00dqfzf20","country_code":"FI","type":"healthcare","lineage":["https://openalex.org/I2800394112","https://openalex.org/I4210090554","https://openalex.org/I4210166427"]},{"id":"https://openalex.org/I4210165462","display_name":"Folkh\u00e4lsans Forskningscentrum","ror":"https://ror.org/05xznzw56","country_code":"FI","type":"government","lineage":["https://openalex.org/I4210165462"]}],"countries":["FI"],"is_corresponding":false,"raw_author_name":"Svetlana Vakkilainen","raw_affiliation_strings":["Children's Hospital, University of Helsinki and Helsinki University Hospital, Folkh\u00e4lsan Research Center, Helsinki, Finland"],"raw_orcid":"https://orcid.org/0000-0002-4573-3297","affiliations":[{"raw_affiliation_string":"Children's Hospital, University of Helsinki and Helsinki University Hospital, Folkh\u00e4lsan Research Center, Helsinki, Finland","institution_ids":["https://openalex.org/I133731052","https://openalex.org/I2800394112","https://openalex.org/I4210090554","https://openalex.org/I4210165462"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":1.4195,"has_fulltext":false,"cited_by_count":26,"citation_normalized_percentile":{"value":0.80489524,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.5551999807357788,"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"}},"topics":[{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.5551999807357788,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.22190000116825104,"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/T13107","display_name":"Congenital limb and hand anomalies","score":0.10520000010728836,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental 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"}}],"keywords":[{"id":"https://openalex.org/keywords/cartilage-hair-hypoplasia","display_name":"cartilage-hair hypoplasia","score":0.9950000047683716},{"id":"https://openalex.org/keywords/rmrp","display_name":"RMRP","score":0.6679999828338623},{"id":"https://openalex.org/keywords/short-stature","display_name":"short stature","score":0.5709999799728394},{"id":"https://openalex.org/keywords/immunodeficiency","display_name":"immunodeficiency","score":0.7699999809265137},{"id":"https://openalex.org/keywords/macrocytic-anemia","display_name":"macrocytic anemia","score":0.9089999794960022},{"id":"https://openalex.org/keywords/atlantoaxial-subluxation","display_name":"atlantoaxial subluxation","score":0.8349999785423279},{"id":"https://openalex.org/keywords/cervical-instability","display_name":"cervical spine instability","score":0.5839999914169312},{"id":"https://openalex.org/keywords/kyphoscoliosis","display_name":"kyphoscoliosis","score":0.8560000061988831},{"id":"https://openalex.org/keywords/congenital-megacolon","display_name":"congenital megacolon","score":0.7910000085830688},{"id":"https://openalex.org/keywords/hirschsprung-disease","display_name":"Hirschsprung disease","score":0.9100000262260437},{"id":"https://openalex.org/keywords/bone-marrow-transplantation","display_name":"bone marrow transplantation","score":0.6510000228881836}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8510801792144775},{"id":"https://openalex.org/C2780327212","wikidata":"https://www.wikidata.org/wiki/Q1568160","display_name":"Hypoplasia","level":2,"score":0.5270034670829773},{"id":"https://openalex.org/C2777871287","wikidata":"https://www.wikidata.org/wiki/Q7502090","display_name":"Short stature","level":2,"score":0.49618464708328247},{"id":"https://openalex.org/C2775894508","wikidata":"https://www.wikidata.org/wiki/Q1128996","display_name":"Dysplasia","level":2,"score":0.45580530166625977},{"id":"https://openalex.org/C2779405702","wikidata":"https://www.wikidata.org/wiki/Q2856379","display_name":"Kyphoscoliosis","level":3,"score":0.432032972574234},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.33345913887023926},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.3307890295982361},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.32718318700790405},{"id":"https://openalex.org/C2780955175","wikidata":"https://www.wikidata.org/wiki/Q174857","display_name":"Scoliosis","level":2,"score":0.2847321629524231}],"mesh":[],"locations_count":1,"locations":[{"id":"mag:604725154","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/22420014/","pdf_url":null,"source":null,"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9476000070571899,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":59,"referenced_works":["https://openalex.org/W84021056","https://openalex.org/W1565936184","https://openalex.org/W1965391903","https://openalex.org/W1966661412","https://openalex.org/W1968983528","https://openalex.org/W1970297832","https://openalex.org/W1971177501","https://openalex.org/W1973476079","https://openalex.org/W1977834242","https://openalex.org/W1986427468","https://openalex.org/W1989112750","https://openalex.org/W1991718987","https://openalex.org/W1993249012","https://openalex.org/W1993489618","https://openalex.org/W1994306509","https://openalex.org/W1994555108","https://openalex.org/W1996195979","https://openalex.org/W2006355342","https://openalex.org/W2009057294","https://openalex.org/W2012124884","https://openalex.org/W2012527934","https://openalex.org/W2016499348","https://openalex.org/W2017372162","https://openalex.org/W2022114091","https://openalex.org/W2022467120","https://openalex.org/W2022605680","https://openalex.org/W2024347928","https://openalex.org/W2032028892","https://openalex.org/W2037805502","https://openalex.org/W2038721807","https://openalex.org/W2041128191","https://openalex.org/W2045942410","https://openalex.org/W2058499120","https://openalex.org/W2059423422","https://openalex.org/W2060862586","https://openalex.org/W2060910264","https://openalex.org/W2063771550","https://openalex.org/W2066526122","https://openalex.org/W2074673900","https://openalex.org/W2079487265","https://openalex.org/W2082627521","https://openalex.org/W2091795674","https://openalex.org/W2092088584","https://openalex.org/W2095082130","https://openalex.org/W2121645773","https://openalex.org/W2130089523","https://openalex.org/W2135048008","https://openalex.org/W2143439659","https://openalex.org/W2149283459","https://openalex.org/W2149666886","https://openalex.org/W2150196608","https://openalex.org/W2154957685","https://openalex.org/W2159641325","https://openalex.org/W2163372377","https://openalex.org/W2169152099","https://openalex.org/W2280011831","https://openalex.org/W2308434407","https://openalex.org/W2394963172","https://openalex.org/W2514642599"],"related_works":["https://openalex.org/W4393255903","https://openalex.org/W4398782911","https://openalex.org/W2410706646","https://openalex.org/W2057502509","https://openalex.org/W2143439659","https://openalex.org/W4379967183","https://openalex.org/W49795029","https://openalex.org/W2034370200","https://openalex.org/W1998306147","https://openalex.org/W7096164841"],"abstract_inverted_index":{"Clinical":[0,376],"characteristics":[1],"The":[3,90,115,570],"cartilage-hair":[4],"hypoplasia":[5,33],"\u2013":[6],"anauxetic":[7],"dysplasia":[8,25,39],"(CHH-AD)":[9],"spectrum":[10,46,121,137,545,572],"disorders":[11,47,122,138],"are":[12,48,123,165,528,631],"a":[13,357,589,595,604,608,616],"continuum":[14],"that":[15,56,235,552],"includes":[16],"the":[17,61,68,96,108,119,127,135,180,198,256,317,339,386,409,451,543,634,638],"following":[18],"phenotypes:":[19],"Metaphyseal":[24],"without":[26],"hypotrichosis":[27],"(MDWH)":[28],"Cartilage-hair":[32],"(CHH)":[34],"Anauxetic":[38],"(AD)":[40],"CHH-AD":[45,120,136,544,571],"characterized":[49],"by":[50,174],"severe":[51,92,314,320],"disproportionate":[52],"(short-limb)":[53],"short":[54,69],"stature":[55],"is":[57,139,354,363,500,573],"usually":[58],"recognized":[59],"in":[60,107,148,172,239,255,338,356,392,397,430,575,637],"newborn,":[62,109],"and":[63,87,110,147,162,182,263,284,305,307,377,389,394,405,496,607,614,623],"occasionally":[64],"prenatally":[65],"because":[66],"of":[67,118,134,152,168,191,276,296,319,347,382,385,408,426,437,447,455,477,491,517,522,532,538,550,584,592,598,603,611],"extremities.":[70],"Other":[71],"findings":[72,164],"include":[73,112],"joint":[74],"hypermobility,":[75],"fine":[76],"silky":[77],"hair,":[78],"immunodeficiency,":[79],"anemia,":[80,156,421],"increased":[81,629],"risk":[82,541,630],"for":[83,184,293,311,423,428,435,457,472,489,542,547,620,626],"malignancy,":[84],"gastrointestinal":[85,158],"dysfunction,":[86,154],"impaired":[88],"spermatogenesis.":[89],"most":[91,97],"phenotype,":[93,100],"AD,":[94,360],"has":[95,588],"pronounced":[98],"skeletal":[99],"may":[101,111,202,212,222,243,260,264,328],"be":[102,223,244,261,554],"associated":[103,251,498,555],"with":[104,252,273,289,359,400,474,556,562],"atlantoaxial":[105],"subluxation":[106],"cognitive":[113],"deficiency.":[114],"clinical":[116,142,161,404,424],"manifestations":[117,551],"variable,":[124],"even":[125],"within":[126],"same":[128],"family.":[129],"Diagnosis/testing":[131],"Diagnosis":[133],"based":[140,279],"on":[141,280],"findings,":[143,146],"characteristic":[144],"radiographic":[145,163,380,406],"some":[149],"cases,":[150],"evidence":[151,436,490],"immune":[153,448],"macrocytic":[155],"and/or":[157,230,300,316,324],"problems.":[159],"If":[160,350],"inconclusive,":[166],"identification":[167],"biallelic":[169],"pathogenic":[170,605,635],"variants":[171,636],"RMRP":[173],"molecular":[175],"genetic":[176],"testing":[177,619,625],"can":[178,553],"confirm":[179],"diagnosis":[181,537],"allow":[183],"family":[185,639],"studies.":[186],"Management":[188],"Treatment":[190,275],"manifestations:":[192],"In":[197,219],"newborn.":[199],"Hypoplastic":[200],"anemia":[201],"require":[203,213,265,402],"repeated":[204],"blood":[205],"transfusions;":[206],"congenital":[207],"megacolon":[208],"or":[209,526],"Hirschsprung":[210],"disease":[211],"surgical":[214],"resection.":[215],"childhood.":[220],"Surgery":[221],"needed":[224],"to":[225,231,246,514],"fuse":[226],"unstable":[227],"cervical":[228,351],"vertebrae":[229],"treat":[232,247],"progressive":[233,248],"kyphoscoliosis":[234],"compromises":[236],"lung":[237],"function":[238,525],"AD;":[240],"corrective":[241],"osteotomies":[242],"required":[245,364,396],"varus":[249],"deformity":[250],"ligament":[253],"laxity":[254],"knees.":[257],"Pubertal":[258],"maturation":[259],"delayed":[262],"hormonal":[266],"induction.":[267],"For":[271,415],"those":[272,416,429,473],"immunodeficiency.":[274],"underlying":[277],"infections":[278,315],"their":[281],"type,":[282],"location,":[283],"severity;":[285],"immediate":[286],"antiviral":[287],"treatment":[288],"intravenous":[290],"high-dose":[291],"acyclovir":[292],"varicella;":[294],"consideration":[295],"prophylactic":[297],"antibiotic":[298],"therapy":[299],"immunoglobulin":[301],"replacement":[302],"therapy;":[303],"physiotherapy":[304],"acute":[306],"long-term":[308],"medical":[309],"management":[310,549],"bronchiectasis.":[312,478],"Recurrent":[313],"presence":[318],"combined":[321],"immunodeficiency":[322],"(SCID)":[323],"severely":[325],"depressed":[326],"erythropoiesis":[327],"warrant":[329],"bone":[330],"marrow":[331],"transplantation.":[332],"Malignancies.":[336,482],"Treat":[337],"usual":[340],"manner.":[341,579],"Prevention":[346],"secondary":[348],"complications:":[349],"spinal":[352],"instability":[353],"identified":[355],"person":[358],"special":[361],"care":[362],"during":[365,450],"general":[366],"anesthesia.":[367],"Surveillance:":[369],"Skeletal":[374],"dysplasia.":[375],"(if":[378],"warranted)":[379],"monitoring":[381,407],"growth,":[383],"joints":[384],"lower":[387],"extremities,":[388],"spine":[390],"annually":[391],"childhood":[393],"as":[395],"adulthood.":[398],"Individuals":[399],"AD":[401],"annual":[403],"spine.":[410],"Anemia.":[414],"who":[417],"have":[418,640],"not":[419,615],"had":[420],"observe":[422],"signs":[425,521],"anemia;":[427],"remission":[431],"after":[432,465],"treatment,":[433],"monitor":[434],"relapse.":[438],"Immunodeficiency/infection.":[442],"Monitor":[443,506],"all":[444],"children":[445],"regardless":[446],"status":[449],"first":[452],"two":[453,467],"years":[454],"life":[456],"recurrent":[458],"infections,":[459,560],"especially":[460],"life-threatening":[461],"varicella.":[462],"Annual":[463],"evaluation":[464],"age":[466],"years.":[468],"High-resolution":[469],"CT":[470],"examination":[471,488],"features":[475],"suggestive":[476],"No":[483],"specific":[484],"recommendations":[485],"exist;":[486],"regular":[487],"lymphomas,":[492],"basal":[493],"cell":[494],"carcinomas,":[495],"other":[497],"malignancies":[499],"advised.":[501],"Endocrinology.":[505],"pubertal":[507],"maturation.":[508],"Agents/circumstances":[513],"avoid:":[515],"Administration":[516],"live":[518,563],"vaccines":[519],"when":[520],"abnormal":[523],"immunologic":[524],"SCID":[527],"present.":[529],"Evaluation":[531],"relatives":[533,539,622],"at":[534,540,628],"risk:":[535],"Early":[536],"allows":[546],"early":[548],"significant":[557],"morbidity":[558],"(e.g.,":[559],"immunization":[561],"vaccines,":[564],"malignancies).":[565],"Genetic":[567],"counseling":[568],"inherited":[574],"an":[576,585,600],"autosomal":[577],"recessive":[578],"At":[580],"conception,":[581],"each":[582],"sib":[583],"affected":[586],"individual":[587],"25%":[590,609],"chance":[591,597,610],"being":[593,599,612],"affected,":[594],"50%":[596],"asymptomatic":[601],"carrier":[602],"variant,":[606],"unaffected":[613],"carrier.":[617],"Carrier":[618],"at-risk":[621],"prenatal":[624],"pregnancies":[627],"possible":[632],"if":[633],"been":[641],"identified.":[642]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2024,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":3},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":3},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":2}],"updated_date":"2026-10-27T15:51:10.671819","created_date":"2016-06-24T00:00:00"}
