{"id":"https://openalex.org/W2049129239","doi":"https://doi.org/10.1136/jmg.33.3.227","title":"Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al.","display_name":"Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al.","publication_year":1996,"publication_date":"1996-03-01","ids":{"openalex":"https://openalex.org/W2049129239","doi":"https://doi.org/10.1136/jmg.33.3.227","mag":"2049129239","pmid":"https://pubmed.ncbi.nlm.nih.gov/8728697","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1051873"},"language":"en","primary_location":{"id":"doi:10.1136/jmg.33.3.227","doi":"https://doi.org/10.1136/jmg.33.3.227","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jmg.33.3.227","pdf_url":"https://jmg.bmj.com/content/jmedgenet/33/3/227.full.pdf","source":{"id":"https://openalex.org/S112540174","display_name":"Journal of Medical Genetics","issn_l":"0022-2593","issn":["0022-2593","1468-6244"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Medical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"https://jmg.bmj.com/content/jmedgenet/33/3/227.full.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5108134152","display_name":"Claudia Perandones","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C Perandones","raw_affiliation_strings":["Instituto Nacional de Gen\u00e9tica M\u00e9dica, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Instituto Nacional de Gen\u00e9tica M\u00e9dica, Buenos Aires, Argentina","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050031587","display_name":"Roxana Cerretini","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"R I Cerretini","raw_affiliation_strings":["Instituto Nacional de Gen\u00e9tica M\u00e9dica, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Instituto Nacional de Gen\u00e9tica M\u00e9dica, Buenos Aires, Argentina","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033157556","display_name":"Ram\u00f3n Miguel Vargas-Vera","orcid":"https://orcid.org/0000-0002-1922-8983","observed_orcids":["https://orcid.org/0000-0002-1922-8983"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"R M Vargas Vera","raw_affiliation_strings":["Instituto Nacional de Gen\u00e9tica M\u00e9dica, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Instituto Nacional de Gen\u00e9tica M\u00e9dica, Buenos Aires, Argentina","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103480210","display_name":"Eliseo I Aranda","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E I Aranda","raw_affiliation_strings":["Instituto Nacional de Gen\u00e9tica M\u00e9dica, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Instituto Nacional de Gen\u00e9tica M\u00e9dica, Buenos Aires, Argentina","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000060029","display_name":"Liliana G. Alba","orcid":"https://orcid.org/0000-0002-4868-163X","observed_orcids":["https://orcid.org/0000-0002-4868-163X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"L G Alba","raw_affiliation_strings":["Instituto Nacional de Gen\u00e9tica M\u00e9dica, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Instituto Nacional de Gen\u00e9tica M\u00e9dica, Buenos Aires, Argentina","institution_ids":[]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5076894190","display_name":"Omar H. Pivetta","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"O H Pivetta","raw_affiliation_strings":["Instituto Nacional de Gen\u00e9tica M\u00e9dica, Buenos Aires, Argentina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Instituto Nacional de Gen\u00e9tica M\u00e9dica, Buenos Aires, Argentina","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":true,"cited_by_count":8,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"33","issue":"3","first_page":"227","last_page":"229"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.9839000105857849,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.9839000105857849,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.007699999958276749,"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":0.0032999999821186066,"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/microcephaly","display_name":"microcephaly","score":0.9610000252723694},{"id":"https://openalex.org/keywords/congenital-malformations","display_name":"congenital malformations","score":0.6399999856948853},{"id":"https://openalex.org/keywords/immunodeficiency","display_name":"immunodeficiency","score":0.8109999895095825},{"id":"https://openalex.org/keywords/scoliosis","display_name":"scoliosis","score":0.8600000143051147},{"id":"https://openalex.org/keywords/joint-contractures","display_name":"joint contractures","score":0.9079999923706055},{"id":"https://openalex.org/keywords/growth-retardation","display_name":"growth retardation","score":0.7459999918937683},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.8009999990463257},{"id":"https://openalex.org/keywords/recurrent-infections","display_name":"recurrent infections","score":0.7279999852180481},{"id":"https://openalex.org/keywords/phenotypic-delineation","display_name":"phenotypic delineation","score":0.9039999842643738}],"concepts":[{"id":"https://openalex.org/C2776395126","wikidata":"https://www.wikidata.org/wiki/Q431643","display_name":"Microcephaly","level":2,"score":0.9515641927719116},{"id":"https://openalex.org/C2780955175","wikidata":"https://www.wikidata.org/wiki/Q174857","display_name":"Scoliosis","level":2,"score":0.5754449367523193},{"id":"https://openalex.org/C2777871287","wikidata":"https://www.wikidata.org/wiki/Q7502090","display_name":"Short stature","level":2,"score":0.49773886799812317},{"id":"https://openalex.org/C2778311950","wikidata":"https://www.wikidata.org/wiki/Q7363","display_name":"Nose","level":2,"score":0.46052274107933044},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.45866575837135315},{"id":"https://openalex.org/C2780446394","wikidata":"https://www.wikidata.org/wiki/Q41055","display_name":"Forehead","level":2,"score":0.4417167603969574},{"id":"https://openalex.org/C54166955","wikidata":"https://www.wikidata.org/wiki/Q658145","display_name":"Chemotaxis","level":3,"score":0.4368986487388611},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4243505001068115},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.36354008316993713},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.3422934412956238},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.29372015595436096},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.22407516837120056},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","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":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000276","qualifier_name":"immunology","is_major_topic":false},{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002634","descriptor_name":"Chemotaxis, Leukocyte","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005145","descriptor_name":"Face","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007596","descriptor_name":"Joints","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D007719","descriptor_name":"Knee Joint","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D007719","descriptor_name":"Knee Joint","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008831","descriptor_name":"Microcephaly","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D011859","descriptor_name":"Radiography","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":3,"locations":[{"id":"doi:10.1136/jmg.33.3.227","doi":"https://doi.org/10.1136/jmg.33.3.227","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jmg.33.3.227","pdf_url":"https://jmg.bmj.com/content/jmedgenet/33/3/227.full.pdf","source":{"id":"https://openalex.org/S112540174","display_name":"Journal of Medical Genetics","issn_l":"0022-2593","issn":["0022-2593","1468-6244"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:1051873","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1051873","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC1051873/pdf/jmedgene00257-0051.pdf","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":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"J Med Genet","raw_type":"Text"},{"id":"pmid:8728697","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8728697","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 of medical genetics","raw_type":"Case Reports"}],"best_oa_location":{"id":"doi:10.1136/jmg.33.3.227","doi":"https://doi.org/10.1136/jmg.33.3.227","is_oa":true,"landing_page_url":"https://doi.org/10.1136/jmg.33.3.227","pdf_url":"https://jmg.bmj.com/content/jmedgenet/33/3/227.full.pdf","source":{"id":"https://openalex.org/S112540174","display_name":"Journal of Medical Genetics","issn_l":"0022-2593","issn":["0022-2593","1468-6244"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Medical Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9537000060081482,"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/W2049129239.pdf","grobid_xml":"https://content.openalex.org/works/W2049129239.grobid-xml"},"referenced_works_count":6,"referenced_works":["https://openalex.org/W1968646687","https://openalex.org/W2000786311","https://openalex.org/W2002637733","https://openalex.org/W2057262915","https://openalex.org/W2072650481","https://openalex.org/W2111486924"],"related_works":["https://openalex.org/W2072650481","https://openalex.org/W4365787278","https://openalex.org/W1990731563","https://openalex.org/W1981420414","https://openalex.org/W2097246782","https://openalex.org/W2123771461","https://openalex.org/W2102019125","https://openalex.org/W2125708130","https://openalex.org/W1973872896","https://openalex.org/W1995863325"],"abstract_inverted_index":{"We":[0,74],"report":[1],"on":[2],"a":[3,49],"13":[4],"year":[5],"old":[6],"boy":[7],"with":[8,108],"microcephaly,":[9],"sloping":[10],"forehead,":[11],"prominent":[12],"nose,":[13],"scoliosis,":[14],"and":[15,21,28,33,43,56,98],"flexion":[16],"contractures":[17],"involving":[18],"the":[19,36,60,66,92,101],"elbows":[20],"knees.":[22],"The":[23,83],"patient":[24],"showed":[25,48],"severe":[26],"mental":[27],"growth":[29],"retardation.":[30],"Since":[31],"birth":[32],"up":[34],"to":[35,65,89,91,99],"present":[37],"he":[38],"has":[39],"suffered":[40],"from":[41],"multiple":[42,109],"varied":[44],"infections.":[45],"Immunological":[46],"studies":[47],"marked":[50],"decrease":[51],"in":[52,106],"leucocyte":[53],"chemotaxis.":[54],"Clinical":[55],"laboratory":[57],"findings":[58],"confirm":[59],"similarity":[61],"of":[62,80,85,95],"this":[63,86,96],"case":[64],"two":[67],"brothers":[68],"described":[69],"by":[70],"Say":[71],"et":[72],"al.":[73],"have":[75],"not":[76],"found":[77],"any":[78],"descriptions":[79],"similar":[81],"patients.":[82],"purpose":[84],"paper":[87],"is":[88],"contribute":[90],"phenotypic":[93],"delineation":[94],"syndrome":[97],"highlight":[100],"need":[102],"for":[103],"immunological":[104],"investigation":[105],"patients":[107],"congenital":[110],"malformations.":[111]},"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}