{"id":"https://openalex.org/W3130197047","doi":"https://doi.org/10.1016/j.radcr.2021.02.031","title":"A case report of Joubert syndrome with renal involvement and seizures in a neonate","display_name":"A case report of Joubert syndrome with renal involvement and seizures in a neonate","publication_year":2021,"publication_date":"2021-02-24","ids":{"openalex":"https://openalex.org/W3130197047","doi":"https://doi.org/10.1016/j.radcr.2021.02.031","mag":"3130197047","pmid":"https://pubmed.ncbi.nlm.nih.gov/33717386","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/7921194"},"language":"en","primary_location":{"id":"doi:10.1016/j.radcr.2021.02.031","doi":"https://doi.org/10.1016/j.radcr.2021.02.031","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.radcr.2021.02.031","pdf_url":"https://www.sciencedirect.com/science/article/pii/S1930043321000947/pdf","source":{"id":"https://openalex.org/S190549722","display_name":"Radiology Case Reports","issn_l":"1930-0433","issn":["1930-0433"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","norway-1","poland-20"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Radiology Case Reports","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://www.sciencedirect.com/science/article/pii/S1930043321000947/pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5043990794","display_name":"Ilir Ahmetgjekaj","orcid":"https://orcid.org/0000-0002-5700-8260","observed_orcids":["https://orcid.org/0000-0002-5700-8260"]},"institutions":[{"id":"https://openalex.org/I4210086961","display_name":"University for Business and Technology","ror":"https://ror.org/00033n668","country_code":"XK","type":"education","lineage":["https://openalex.org/I4210086961"]}],"countries":["XK"],"is_corresponding":false,"raw_author_name":"Ilir Ahmetgjekaj","raw_affiliation_strings":["Department of Radiology, UBT and UCC, Pristina, Kosovo"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Radiology, UBT and UCC, Pristina, Kosovo","institution_ids":["https://openalex.org/I4210086961"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034969492","display_name":"Masum Rahman","orcid":"https://orcid.org/0000-0003-1777-948X","observed_orcids":["https://orcid.org/0000-0003-1777-948X"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Masum Rahman","raw_affiliation_strings":["Department of Neurosurgery, Mayo Clinic, Minnesota"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Neurosurgery, Mayo Clinic, Minnesota","institution_ids":["https://openalex.org/I1330342723"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007042453","display_name":"Fjolla Hyseni","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210086933","display_name":"NYU Langone Health","ror":"https://ror.org/005dvqh91","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210086933"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Fjolla Hyseni","raw_affiliation_strings":["Department of Urology, NYU Langone Health, New York"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Urology, NYU Langone Health, New York","institution_ids":["https://openalex.org/I4210086933"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040072859","display_name":"Ali Guy","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I126533617","display_name":"Alliant University","ror":"https://ror.org/04k8zab17","country_code":"US","type":"education","lineage":["https://openalex.org/I126533617"]},{"id":"https://openalex.org/I4210086933","display_name":"NYU Langone Health","ror":"https://ror.org/005dvqh91","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210086933"]},{"id":"https://openalex.org/I57206974","display_name":"New York University","ror":"https://ror.org/0190ak572","country_code":"US","type":"education","lineage":["https://openalex.org/I57206974"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Ali Guy","raw_affiliation_strings":["MS MA Clinical Psychology Ph.D Student Health Emphasis California School of Professional Psychology Alliant International University, Los Angeles, California","NY University, School of Medicine-NYU Medical Center, New York"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MS MA Clinical Psychology Ph.D Student Health Emphasis California School of Professional Psychology Alliant International University, Los Angeles, California","institution_ids":["https://openalex.org/I126533617"]},{"raw_affiliation_string":"NY University, School of Medicine-NYU Medical Center, New York","institution_ids":["https://openalex.org/I4210086933","https://openalex.org/I57206974"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058881411","display_name":"Kulsum Madani","orcid":"https://orcid.org/0000-0002-9026-1735","observed_orcids":["https://orcid.org/0000-0002-9026-1735"]},"institutions":[{"id":"https://openalex.org/I149145351","display_name":"Deccan College of Medical Sciences","ror":"https://ror.org/02akmdw70","country_code":"IN","type":"education","lineage":["https://openalex.org/I149145351"]}],"countries":["IN"],"is_corresponding":false,"raw_author_name":"Kulsum Madani","raw_affiliation_strings":["Deccan College Of Medical Sciences (DCMS), Telangana, India"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Deccan College Of Medical Sciences (DCMS), Telangana, India","institution_ids":["https://openalex.org/I149145351"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040629289","display_name":"Kristi Saliaj","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800414091","display_name":"Mother Teresa Hospital","ror":"https://ror.org/027x3m696","country_code":"AL","type":"healthcare","lineage":["https://openalex.org/I2800414091"]}],"countries":["AL"],"is_corresponding":false,"raw_author_name":"Kristi Saliaj","raw_affiliation_strings":["University Hospital Center 'Mother Teresa', Tirana, Albania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University Hospital Center 'Mother Teresa', Tirana, Albania","institution_ids":["https://openalex.org/I2800414091"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015137415","display_name":"Angela Guy","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I126533617","display_name":"Alliant University","ror":"https://ror.org/04k8zab17","country_code":"US","type":"education","lineage":["https://openalex.org/I126533617"]},{"id":"https://openalex.org/I4210086933","display_name":"NYU Langone Health","ror":"https://ror.org/005dvqh91","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210086933"]},{"id":"https://openalex.org/I57206974","display_name":"New York University","ror":"https://ror.org/0190ak572","country_code":"US","type":"education","lineage":["https://openalex.org/I57206974"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Angela Guy","raw_affiliation_strings":["MS MA Clinical Psychology Ph.D Student Health Emphasis California School of Professional Psychology Alliant International University, Los Angeles, California","NY University, School of Medicine-NYU Medical Center, New York"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"MS MA Clinical Psychology Ph.D Student Health Emphasis California School of Professional Psychology Alliant International University, Los Angeles, California","institution_ids":["https://openalex.org/I126533617"]},{"raw_affiliation_string":"NY University, School of Medicine-NYU Medical Center, New York","institution_ids":["https://openalex.org/I4210086933","https://openalex.org/I57206974"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5018460704","display_name":"Valon Vokshi","orcid":"https://orcid.org/0000-0002-8037-0540","observed_orcids":["https://orcid.org/0000-0002-8037-0540"]},"institutions":[{"id":"https://openalex.org/I4210087365","display_name":"University Clinical Center of Kosovo","ror":"https://ror.org/005tw0h26","country_code":"XK","type":"healthcare","lineage":["https://openalex.org/I4210087365"]}],"countries":["XK"],"is_corresponding":false,"raw_author_name":"Valon Vokshi","raw_affiliation_strings":["Department of Anesthesiology, University Clinical Centre of Kosovo, Pristina, Kosovo"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Anesthesiology, University Clinical Centre of Kosovo, Pristina, Kosovo","institution_ids":["https://openalex.org/I4210087365"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112683780","display_name":"Ina Kola","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ina Kola","raw_affiliation_strings":["Department of Burns and Plastic Surgery, Tirana, Albania"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Burns and Plastic Surgery, Tirana, Albania","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5042047130","display_name":"Juna Musa","orcid":"https://orcid.org/0000-0002-0587-1564","observed_orcids":["https://orcid.org/0000-0002-0587-1564"]},"institutions":[{"id":"https://openalex.org/I1330342723","display_name":"Mayo Clinic","ror":"https://ror.org/02qp3tb03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330342723"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Juna Musa","raw_affiliation_strings":["Department of Surgery, Mayo Clinic, MN, 32224 USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Surgery, Mayo Clinic, MN, 32224 USA","institution_ids":["https://openalex.org/I1330342723"]}]}],"institutions":[],"countries_distinct_count":4,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5042047130"],"corresponding_institution_ids":["https://openalex.org/I1330342723"],"apc_list":{"value":500,"currency":"USD","value_usd":500},"apc_paid":{"value":500,"currency":"USD","value_usd":500},"fwci":1.1309,"has_fulltext":true,"cited_by_count":12,"citation_normalized_percentile":{"value":0.74886596,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"16","issue":"5","first_page":"1075","last_page":"1079"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.9789999723434448,"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/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":0.9789999723434448,"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/T12552","display_name":"Fetal and Pediatric Neurological Disorders","score":0.011800000444054604,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"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/T11027","display_name":"Metabolism and Genetic Disorders","score":0.002400000113993883,"subfield":{"id":"https://openalex.org/subfields/1308","display_name":"Clinical Biochemistry"},"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/joubert-syndrome","display_name":"Joubert syndrome","score":1.0},{"id":"https://openalex.org/keywords/ciliopathy","display_name":"ciliopathies","score":0.8370000123977661},{"id":"https://openalex.org/keywords/renal-involvement","display_name":"renal involvement","score":0.5879999995231628},{"id":"https://openalex.org/keywords/polycystic-kidney-disease","display_name":"polycystic kidney disease","score":0.9100000262260437},{"id":"https://openalex.org/keywords/renal-hyperplasia","display_name":"renal hyperplasia","score":0.9110000133514404},{"id":"https://openalex.org/keywords/neonatal-seizures","display_name":"neonatal seizures","score":0.871999979019165},{"id":"https://openalex.org/keywords/respiratory-distress","display_name":"respiratory distress","score":0.7110000252723694},{"id":"https://openalex.org/keywords/molar-tooth-sign","display_name":"molar tooth sign","score":0.8529999852180481},{"id":"https://openalex.org/keywords/primary-cilia","display_name":"primary cilia","score":0.7409999966621399},{"id":"https://openalex.org/keywords/molecular-genetic-testing","display_name":"molecular genetic testing","score":0.5899999737739563},{"id":"https://openalex.org/keywords/neonatal-intensive-care","display_name":"neonatal intensive care","score":0.7329999804496765}],"concepts":[{"id":"https://openalex.org/C2777386794","wikidata":"https://www.wikidata.org/wiki/Q1101694","display_name":"Joubert syndrome","level":3,"score":0.952474057674408},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.760619044303894},{"id":"https://openalex.org/C2780561973","wikidata":"https://www.wikidata.org/wiki/Q203031","display_name":"Ciliopathy","level":4,"score":0.6432743072509766},{"id":"https://openalex.org/C2779546488","wikidata":"https://www.wikidata.org/wiki/Q1753547","display_name":"Hypotonia","level":2,"score":0.5547241568565369},{"id":"https://openalex.org/C2910395002","wikidata":"https://www.wikidata.org/wiki/Q203031","display_name":"Ciliopathies","level":4,"score":0.528342604637146},{"id":"https://openalex.org/C2778183499","wikidata":"https://www.wikidata.org/wiki/Q223851","display_name":"Corpus callosum","level":2,"score":0.459644079208374},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4365094304084778},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.4058971107006073},{"id":"https://openalex.org/C100094513","wikidata":"https://www.wikidata.org/wiki/Q180436","display_name":"Cilium","level":2,"score":0.2895694375038147},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.11143729090690613},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.10058513283729553},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.0}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.1016/j.radcr.2021.02.031","doi":"https://doi.org/10.1016/j.radcr.2021.02.031","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.radcr.2021.02.031","pdf_url":"https://www.sciencedirect.com/science/article/pii/S1930043321000947/pdf","source":{"id":"https://openalex.org/S190549722","display_name":"Radiology Case Reports","issn_l":"1930-0433","issn":["1930-0433"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","norway-1","poland-20"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Radiology Case Reports","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:7921194","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/7921194","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-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Radiol Case Rep","raw_type":"Text"},{"id":"pmid:33717386","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/33717386","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":"Radiology case reports","raw_type":"Case Reports"},{"id":"pmh:oai:doaj.org/article:43dd88c0499d44fbbae0a2f6c58d8a83","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/43dd88c0499d44fbbae0a2f6c58d8a83","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Radiology Case Reports, Vol 16, Iss 5, Pp 1075-1079 (2021)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1016/j.radcr.2021.02.031","doi":"https://doi.org/10.1016/j.radcr.2021.02.031","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.radcr.2021.02.031","pdf_url":"https://www.sciencedirect.com/science/article/pii/S1930043321000947/pdf","source":{"id":"https://openalex.org/S190549722","display_name":"Radiology Case Reports","issn_l":"1930-0433","issn":["1930-0433"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","norway-1","poland-20"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Radiology Case Reports","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9907000064849854,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W3130197047.pdf","grobid_xml":"https://content.openalex.org/works/W3130197047.grobid-xml"},"referenced_works_count":10,"referenced_works":["https://openalex.org/W2066041050","https://openalex.org/W2072567708","https://openalex.org/W2099730852","https://openalex.org/W2110283302","https://openalex.org/W2112101855","https://openalex.org/W2120185413","https://openalex.org/W2141813845","https://openalex.org/W2145237803","https://openalex.org/W2166857360","https://openalex.org/W2167610910"],"related_works":["https://openalex.org/W4280631637","https://openalex.org/W4384008906","https://openalex.org/W7171770469","https://openalex.org/W2522677835","https://openalex.org/W4361802378","https://openalex.org/W6977492382","https://openalex.org/W4206692044","https://openalex.org/W2981517431","https://openalex.org/W4404385331","https://openalex.org/W1564342421"],"abstract_inverted_index":{"Joubert":[0,50,103,231],"Syndrome":[1],"is":[2,92],"a":[3,11,53,130,203,208,228,264,268],"rare":[4,253],"autosomal":[5],"recessive":[6],"genetic":[7,240],"disorder":[8,117],"characterized":[9],"by":[10],"distinctive":[12],"midbrain-hindbrain":[13],"malformation":[14],"that":[15],"gives":[16],"the":[17,32,42,96,105,109,116,127,138,158,191,196,223,261,274],"appearance":[18],"of":[19,129,152,160,165,190,198,211,230,257,263,276],"\u201cthe":[20],"molar":[21,224],"tooth":[22,225],"sign\u201d":[23],"on":[24],"axial":[25],"magnetic":[26],"resonance":[27],"imaging":[28],"(MRI).":[29],"Mutations":[30],"in":[31,65,72,112,206,273],"implicated":[33],"genes,":[34],"affect":[35],"proteins":[36],"integral":[37],"to":[38,62,95,107,137,248,251],"cellular":[39],"structures":[40],"like":[41],"primary":[43],"cilium,":[44],"basal":[45],"bodies":[46],"and":[47,84,114,155,167,171,176,182,193,216,254,259,267,270],"centromeres,":[48],"categorizing":[49],"syndrome":[51],"as":[52,220,222],"ciliopathy.":[54],"The":[55,233],"most":[56],"common":[57],"clinical":[58,98,110],"manifestations":[59],"include":[60],"moderate":[61],"severe":[63],"hypotonia":[64],"early":[66],"infancy":[67],"with":[68,148,202],"ataxia":[69],"developing":[70],"later":[71,115],"life,":[73],"abnormal":[74],"breathing":[75],"patterns":[76],"(tachypnea,":[77],"apnea),":[78],"atypical":[79],"eye":[80],"movements,":[81],"development":[82],"delay":[83],"intellectual":[85],"disabilities.":[86],"Differential":[87],"diagnosis":[88,229,234,266],"between":[89],"different":[90],"ciliopathies":[91],"challenging":[93],"due":[94],"overlapping":[97],"features.":[99],"French":[100],"neurologist":[101],"Marie":[102],"was":[104,118,135,235],"first":[106],"describe":[108],"findings":[111],"1969":[113],"named":[119],"after":[120,145,172],"her.":[121],"In":[122],"this":[123,243,252],"report,":[124,245],"we":[125,246],"present":[126],"case":[128,244],"newborn":[131],"female":[132],"patient":[133],"who":[134],"admitted":[136],"neonatal":[139],"intensive":[140],"care":[141],"unit":[142],"12":[143],"hours":[144],"birth,":[146],"presenting":[147],"dyspnea,":[149],"cyanosis,":[150],"signs":[151],"respiratory":[153],"distress":[154],"seizures.":[156],"During":[157],"course":[159],"her":[161],"hospitalization":[162],"elevated":[163],"levels":[164],"urea":[166],"creatinine":[168],"were":[169,186],"detected":[170],"an":[173,214],"abdominal":[174],"ultrasound":[175],"CT":[177],"evaluation":[178],"bilateral":[179],"renal":[180],"hyperplasia":[181],"polycystic":[183],"kidney":[184],"disease":[185],"discovered.":[187],"An":[188],"MRI":[189],"head":[192],"neck":[194],"revealed":[195],"presence":[197],"inferior":[199],"vermis":[200],"agenesis,":[201],"medial":[204],"crack":[205],"cerebellum,":[207],"partial":[209],"dysgenesis":[210],"corpus":[212],"callosum,":[213],"underlying":[215],"thicker":[217],"cerebral":[218],"peduncle,":[219],"well":[221],"sign":[226],"suggesting":[227],"syndrome.":[232],"ultimately":[236],"confirmed":[237],"through":[238],"molecular":[239],"testing.":[241],"Through":[242],"hope":[247],"draw":[249],"attention":[250],"elusive":[255],"group":[256],"disorders":[258],"emphasize":[260],"value":[262],"prompt":[265],"proactive":[269],"multidisciplinary":[271],"approach":[272],"management":[275],"these":[277],"patients.":[278]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":4},{"year":2022,"cited_by_count":3}],"updated_date":"2026-10-28T10:33:24.094632","created_date":"2021-03-01T00:00:00"}