{"id":"https://openalex.org/W2474446015","doi":null,"title":"[Weill Marchesani syndrome. Report of a case].","display_name":"[Weill Marchesani syndrome. Report of a case].","publication_year":2001,"publication_date":"2001-11-01","ids":{"openalex":"https://openalex.org/W2474446015","mag":"2474446015","pmid":"https://pubmed.ncbi.nlm.nih.gov/11912838"},"language":"fr","primary_location":{"id":"pmid:11912838","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11912838","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":"Journal francais d'ophtalmologie","raw_type":"Case Reports"},"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/A5067325712","display_name":"El Kettani A","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210098714","display_name":"H\u00f4pital 20 Ao\u00fbt","ror":"https://ror.org/012bh1w56","country_code":"MA","type":"healthcare","lineage":["https://openalex.org/I4210098714"]},{"id":"https://openalex.org/I4210138534","display_name":"Centre Hospitalier Universitaire Ibn Rochd","ror":"https://ror.org/03sbc8x80","country_code":"MA","type":"healthcare","lineage":["https://openalex.org/I4210138534"]}],"countries":["MA"],"is_corresponding":false,"raw_author_name":"A el Kettani","raw_affiliation_strings":["Service d'Ophtalmologie, h\u00f4pital 20 Ao\u00fbt 1953, CHU Ibn Rochd, Casablanca, Maroc"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service d'Ophtalmologie, h\u00f4pital 20 Ao\u00fbt 1953, CHU Ibn Rochd, Casablanca, Maroc","institution_ids":["https://openalex.org/I4210098714","https://openalex.org/I4210138534"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112754295","display_name":"M. Hamdani","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M Hamdani","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074960971","display_name":"Lamia Rais","orcid":"https://orcid.org/0000-0001-7254-7548","observed_orcids":["https://orcid.org/0000-0001-7254-7548"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"L Rais","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001354629","display_name":"el Belhadji M","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M el Belhadji","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"R Rachid","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"R Rachid","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078109719","display_name":"N Laouissi","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"N Laouissi","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5068962923","display_name":"K. Zaghloul","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"K Zaghloul","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5039396507","display_name":"A. Amraoui","orcid":"https://orcid.org/0000-0003-2692-4984","observed_orcids":["https://orcid.org/0000-0003-2692-4984"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A Amraoui","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":3,"citation_normalized_percentile":{"value":0.33865936,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"24","issue":"9","first_page":"944","last_page":"8"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12989","display_name":"Ocular Disorders and Treatments","score":0.8910999894142151,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/T12989","display_name":"Ocular Disorders and Treatments","score":0.8910999894142151,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/T11291","display_name":"Intraocular Surgery and Lenses","score":0.05299999937415123,"subfield":{"id":"https://openalex.org/subfields/2731","display_name":"Ophthalmology"},"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/T11310","display_name":"Connective tissue disorders research","score":0.026799999177455902,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/weill-marchesani-syndrome","display_name":"Weill-Marchesani syndrome","score":0.9430000185966492},{"id":"https://openalex.org/keywords/microspherophakia","display_name":"microspherophakia","score":0.9649999737739563},{"id":"https://openalex.org/keywords/secondary-glaucoma","display_name":"secondary glaucoma","score":0.7289999723434448},{"id":"https://openalex.org/keywords/pupillary-block","display_name":"pupillary block","score":0.9210000038146973},{"id":"https://openalex.org/keywords/anterior-vitrectomy","display_name":"anterior vitrectomy","score":0.890999972820282},{"id":"https://openalex.org/keywords/trabeculectomy","display_name":"trabeculectomy","score":0.9980000257492065},{"id":"https://openalex.org/keywords/consanguinity","display_name":"consanguinity","score":0.609000027179718},{"id":"https://openalex.org/keywords/autosomal-recessive-inheritance","display_name":"autosomal recessive inheritance","score":0.8769999742507935},{"id":"https://openalex.org/keywords/optic-disc-excavation","display_name":"optic disc excavation","score":0.6600000262260437},{"id":"https://openalex.org/keywords/skeletal-dysplasia","display_name":"skeletal dysplasia","score":0.6690000295639038},{"id":"https://openalex.org/keywords/dwarfism","display_name":"dwarfism","score":0.503000020980835},{"id":"https://openalex.org/keywords/rheumatic-aortic-valve-disease","display_name":"rheumatic aortic valve disease","score":0.675000011920929}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.845822811126709},{"id":"https://openalex.org/C118487528","wikidata":"https://www.wikidata.org/wiki/Q161437","display_name":"Ophthalmology","level":1,"score":0.7023404836654663},{"id":"https://openalex.org/C2780892088","wikidata":"https://www.wikidata.org/wiki/Q1414474","display_name":"Gonioscopy","level":3,"score":0.693443775177002},{"id":"https://openalex.org/C2778257484","wikidata":"https://www.wikidata.org/wiki/Q555066","display_name":"Visual acuity","level":2,"score":0.5316981077194214},{"id":"https://openalex.org/C2778527774","wikidata":"https://www.wikidata.org/wiki/Q159701","display_name":"Glaucoma","level":2,"score":0.5275375843048096},{"id":"https://openalex.org/C2776391266","wikidata":"https://www.wikidata.org/wiki/Q9612","display_name":"Fundus (uterus)","level":2,"score":0.46911337971687317},{"id":"https://openalex.org/C2781092963","wikidata":"https://www.wikidata.org/wiki/Q650050","display_name":"Intraocular pressure","level":2,"score":0.4538584351539612},{"id":"https://openalex.org/C2780661881","wikidata":"https://www.wikidata.org/wiki/Q915322","display_name":"Coats' disease","level":3,"score":0.43278852105140686},{"id":"https://openalex.org/C2777824320","wikidata":"https://www.wikidata.org/wiki/Q3177088","display_name":"Trabeculectomy","level":3,"score":0.41756486892700195},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.3426544666290283},{"id":"https://openalex.org/C2780827179","wikidata":"https://www.wikidata.org/wiki/Q422001","display_name":"Retinal","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001842","descriptor_name":"Bone and Bones","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D004392","descriptor_name":"Dwarfism","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007908","descriptor_name":"Lens, Crystalline","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","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":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:11912838","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11912838","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":"Journal francais d'ophtalmologie","raw_type":"Case Reports"},{"id":"mag:2474446015","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/11912838","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":[{"id":"https://metadata.un.org/sdg/3","score":0.9763000011444092,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4312115480","https://openalex.org/W4291924716","https://openalex.org/W4389276536","https://openalex.org/W3138217632","https://openalex.org/W1972897632","https://openalex.org/W2137817593","https://openalex.org/W2105527063","https://openalex.org/W4403494832","https://openalex.org/W7204857420","https://openalex.org/W7131381593"],"abstract_inverted_index":{"Weill":[0,167,206],"Marchesani":[1,168,207],"syndrome":[2,169],"is":[3,170,183],"a":[4,16,21,25,35,121,171,176],"congenital":[5,173],"disease":[6],"that":[7,52],"combines":[8],"microspherophakia":[9,99],"and":[10,43,45,66,84,98],"skeletal":[11],"abnormalities.":[12],"The":[13,31,48,91,103,112,150,180],"authors":[14],"report":[15],"19-year-old":[17],"male,":[18],"born":[19],"of":[20,69,100,128,153,202,212,218],"consanguineous":[22],"marriage,":[23],"with":[24,96,125,157,175],"progressive":[26],"decrease":[27],"in":[28,60,71,80,87,108,205],"visual":[29,53,181],"acuity.":[30],"general":[32],"examination":[33,50,119],"showed":[34,51,120],"squat":[36],"look,":[37],"dwarfism,":[38],"muscle":[39],"hypertrophy,":[40],"short":[41],"hands":[42],"feet,":[44],"joint":[46],"stiffness.":[47],"ophthalmological":[49],"acuity":[54],"was":[55,77,94,105,115,140],"limited":[56],"to":[57,189],"hand":[58],"motion":[59],"the":[61,72,81,88,109,131,134,137,164,193,200,210,216],"right":[62,82,110,165],"eye":[63,83,118,195],"despite":[64],"correction":[65],"no":[67],"perception":[68],"light":[70],"left":[73,89,135],"eye.":[74,90,111,166],"Intraocular":[75],"pressure":[76],"36":[78],"mmHg":[79,86],"40":[85],"anterior":[92,158],"chamber":[93],"irregular":[95],"iridophakodonesis":[97],"both":[101],"lenses.":[102],"zonula":[104],"partially":[106],"ruptured":[107],"iridocorneal":[113],"angle":[114],"narrow.":[116],"Fundus":[117],"pale":[122],"optic":[123,138],"disc":[124,139],"an":[126],"excavation":[127],"9/10":[129],"on":[130,163],"right.":[132],"In":[133],"eye,":[136],"totally":[141],"excavated.":[142],"Cardiovascular":[143],"check-up":[144],"revealed":[145],"rheumatic":[146],"aortic":[147],"valvular":[148],"cardiopathy.":[149],"therapy":[151],"consisted":[152],"combined":[154],"surgery:":[155],"phakophagia":[156],"vitrectomy":[159],"plus":[160],"trabeculectomy":[161],"operated":[162],"rare":[172],"affection":[174],"recessive":[177],"autosomal":[178],"transmission.":[179],"prognosis":[182],"dominated":[184],"by":[185,192],"secondary":[186],"glaucoma":[187],"due":[188],"pupillary":[190],"blockage":[191],"mobile":[194],"lens.":[196],"This":[197],"observation":[198],"illustrates":[199],"seriousness":[201],"spontaneous":[203],"progression":[204],"syndrome,":[208],"justifying":[209],"necessity":[211],"lens":[213],"extraction":[214],"before":[215],"onset":[217],"complications.":[219]},"counts_by_year":[{"year":2018,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-07-22T00:00:00"}