{"id":"https://openalex.org/W2105211366","doi":"https://doi.org/10.1002/(sici)1096-8628(19971003)72:1<11::aid-ajmg3>3.0.co;2-y","title":"Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia): Morphological findings in the growth plate of the iliac crest","display_name":"Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia): Morphological findings in the growth plate of the iliac crest","publication_year":1997,"publication_date":"1997-10-03","ids":{"openalex":"https://openalex.org/W2105211366","doi":"https://doi.org/10.1002/(sici)1096-8628(19971003)72:1<11::aid-ajmg3>3.0.co;2-y","mag":"2105211366","pmid":"https://pubmed.ncbi.nlm.nih.gov/9295067"},"language":"en","primary_location":{"id":"doi:10.1002/(sici)1096-8628(19971003)72:1<11::aid-ajmg3>3.0.co;2-y","doi":"https://doi.org/10.1002/(sici)1096-8628(19971003)72:1<11::aid-ajmg3>3.0.co;2-y","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1096-8628(19971003)72:1<11::aid-ajmg3>3.0.co;2-y","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"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":"American Journal of Medical Genetics","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/A5102399354","display_name":"Kozo Nakamura","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I74801974","display_name":"The University of Tokyo","ror":"https://ror.org/057zh3y96","country_code":"JP","type":"education","lineage":["https://openalex.org/I74801974"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"Kozo Nakamura","raw_affiliation_strings":["Department of Orthopedic Surgery, Faculty of Medicine, University of Tokyo, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthopedic Surgery, Faculty of Medicine, University of Tokyo, Tokyo, Japan","institution_ids":["https://openalex.org/I74801974"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103468294","display_name":"Takahide Kurokawa","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I74801974","display_name":"The University of Tokyo","ror":"https://ror.org/057zh3y96","country_code":"JP","type":"education","lineage":["https://openalex.org/I74801974"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Takahide Kurokawa","raw_affiliation_strings":["Department of Orthopedic Surgery, Faculty of Medicine, University of Tokyo, Tokyo, Japan","Dept. of Orthopedic Surgery, Faculty of Medicine, University of Tokyo, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthopedic Surgery, Faculty of Medicine, University of Tokyo, Tokyo, Japan","institution_ids":["https://openalex.org/I74801974"]},{"raw_affiliation_string":"Dept. of Orthopedic Surgery, Faculty of Medicine, University of Tokyo, Tokyo, Japan","institution_ids":["https://openalex.org/I74801974"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044533130","display_name":"Akira Nagano","orcid":"https://orcid.org/0000-0002-0032-4799","observed_orcids":["https://orcid.org/0000-0002-0032-4799"]},"institutions":[{"id":"https://openalex.org/I74801974","display_name":"The University of Tokyo","ror":"https://ror.org/057zh3y96","country_code":"JP","type":"education","lineage":["https://openalex.org/I74801974"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Akira Nagano","raw_affiliation_strings":["Department of Orthopedic Surgery, Faculty of Medicine, University of Tokyo, Tokyo, Japan","Dept. of Orthopedic Surgery, Faculty of Medicine, University of Tokyo, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthopedic Surgery, Faculty of Medicine, University of Tokyo, Tokyo, Japan","institution_ids":["https://openalex.org/I74801974"]},{"raw_affiliation_string":"Dept. of Orthopedic Surgery, Faculty of Medicine, University of Tokyo, Tokyo, Japan","institution_ids":["https://openalex.org/I74801974"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046996291","display_name":"Shigeru Nakamura","orcid":"https://orcid.org/0000-0002-3607-5974","observed_orcids":["https://orcid.org/0000-0002-3607-5974"]},"institutions":[{"id":"https://openalex.org/I74801974","display_name":"The University of Tokyo","ror":"https://ror.org/057zh3y96","country_code":"JP","type":"education","lineage":["https://openalex.org/I74801974"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Shigeru Nakamura","raw_affiliation_strings":["Department of Orthopedic Surgery, Faculty of Medicine, University of Tokyo, Tokyo, Japan","Dept. of Orthopedic Surgery, Faculty of Medicine, University of Tokyo, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthopedic Surgery, Faculty of Medicine, University of Tokyo, Tokyo, Japan","institution_ids":["https://openalex.org/I74801974"]},{"raw_affiliation_string":"Dept. of Orthopedic Surgery, Faculty of Medicine, University of Tokyo, Tokyo, Japan","institution_ids":["https://openalex.org/I74801974"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Kazuhiko Taniguchi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I74801974","display_name":"The University of Tokyo","ror":"https://ror.org/057zh3y96","country_code":"JP","type":"education","lineage":["https://openalex.org/I74801974"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Kazuhiko Taniguchi","raw_affiliation_strings":["Department of Orthopedic Surgery, Faculty of Medicine, University of Tokyo, Tokyo, Japan","Dept. of Orthopedic Surgery, Faculty of Medicine, University of Tokyo, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Orthopedic Surgery, Faculty of Medicine, University of Tokyo, Tokyo, Japan","institution_ids":["https://openalex.org/I74801974"]},{"raw_affiliation_string":"Dept. of Orthopedic Surgery, Faculty of Medicine, University of Tokyo, Tokyo, Japan","institution_ids":["https://openalex.org/I74801974"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5113615014","display_name":"Minoru Hamazaki","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210161002","display_name":"Shizuoka Children's Hospital","ror":"https://ror.org/05x23rx38","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210161002"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Minoru Hamazaki","raw_affiliation_strings":["Department of Pathology, Shizuoka Children's Hospital, Shizuoka City, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pathology, Shizuoka Children's Hospital, Shizuoka City, Japan","institution_ids":["https://openalex.org/I4210161002"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5102399354"],"corresponding_institution_ids":["https://openalex.org/I74801974"],"apc_list":null,"apc_paid":null,"fwci":0.4835,"has_fulltext":false,"cited_by_count":41,"citation_normalized_percentile":{"value":0.65971533,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"72","issue":"1","first_page":"11","last_page":"17"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10975","display_name":"Bone Tumor Diagnosis and Treatments","score":0.34060001373291016,"subfield":{"id":"https://openalex.org/subfields/2732","display_name":"Orthopedics and Sports Medicine"},"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/T10975","display_name":"Bone Tumor Diagnosis and Treatments","score":0.34060001373291016,"subfield":{"id":"https://openalex.org/subfields/2732","display_name":"Orthopedics and Sports Medicine"},"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/T10945","display_name":"Lysosomal Storage Disorders Research","score":0.2768999934196472,"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"}},{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.09480000287294388,"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/dyggve-melchior-clausen-syndrome","display_name":"Dyggve-Melchior-Clausen syndrome","score":0.953000009059906},{"id":"https://openalex.org/keywords/iliac-crest","display_name":"iliac crest","score":0.6299999952316284},{"id":"https://openalex.org/keywords/growth-plate","display_name":"growth plate","score":0.9430000185966492},{"id":"https://openalex.org/keywords/endochondral-ossification","display_name":"endochondral ossification","score":0.9070000052452087},{"id":"https://openalex.org/keywords/chondrocytes","display_name":"chondrocytes","score":0.8899999856948853},{"id":"https://openalex.org/keywords/osteochondral-junction","display_name":"osteochondral junction","score":0.800000011920929},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.6330000162124634},{"id":"https://openalex.org/keywords/electron-microscopy","display_name":"electron microscopy","score":0.4729999899864197},{"id":"https://openalex.org/keywords/skeletal-dysplasia","display_name":"skeletal dysplasia","score":0.5249999761581421}],"concepts":[{"id":"https://openalex.org/C2779079599","wikidata":"https://www.wikidata.org/wiki/Q3774464","display_name":"Iliac crest","level":2,"score":0.8241093158721924},{"id":"https://openalex.org/C158617107","wikidata":"https://www.wikidata.org/wiki/Q79927","display_name":"Endoplasmic reticulum","level":2,"score":0.7426532506942749},{"id":"https://openalex.org/C2778842504","wikidata":"https://www.wikidata.org/wiki/Q1121544","display_name":"Ossification","level":2,"score":0.6172078251838684},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.573760986328125},{"id":"https://openalex.org/C2775894508","wikidata":"https://www.wikidata.org/wiki/Q1128996","display_name":"Dysplasia","level":2,"score":0.5531147122383118},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5259637832641602},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.24950546026229858},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.23350197076797485},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.10022962093353271}],"mesh":[{"descriptor_ui":"D002356","descriptor_name":"Cartilage","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D002356","descriptor_name":"Cartilage","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005121","descriptor_name":"Extremities","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D005121","descriptor_name":"Extremities","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006130","descriptor_name":"Growth Disorders","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":true},{"descriptor_ui":"D006130","descriptor_name":"Growth Disorders","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006132","descriptor_name":"Growth Plate","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D006225","descriptor_name":"Hand","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007085","descriptor_name":"Ilium","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008854","descriptor_name":"Microscopy, Electron","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010388","descriptor_name":"Pelvis","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D011859","descriptor_name":"Radiography","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013131","descriptor_name":"Spine","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D017880","descriptor_name":"Limb Deformities, Congenital","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D018870","descriptor_name":"Endoplasmic Reticulum, Rough","qualifier_ui":"Q000648","qualifier_name":"ultrastructure","is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1002/(sici)1096-8628(19971003)72:1<11::aid-ajmg3>3.0.co;2-y","doi":"https://doi.org/10.1002/(sici)1096-8628(19971003)72:1<11::aid-ajmg3>3.0.co;2-y","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1096-8628(19971003)72:1<11::aid-ajmg3>3.0.co;2-y","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"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":"American Journal of Medical Genetics","raw_type":"journal-article"},{"id":"doi:10.1002/(sici)1096-8628(19971003)72:1<11::aid-ajmg3>3.3.co;2-0","doi":"https://doi.org/10.1002/(sici)1096-8628(19971003)72:1<11::aid-ajmg3>3.3.co;2-0","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1096-8628(19971003)72:1<11::aid-ajmg3>3.3.co;2-0","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"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":"American Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmid:9295067","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9295067","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":"American journal of medical genetics","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.9391000270843506,"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":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":15,"referenced_works":["https://openalex.org/W129895310","https://openalex.org/W1982986538","https://openalex.org/W2036834784","https://openalex.org/W2039612857","https://openalex.org/W2048351162","https://openalex.org/W2065656779","https://openalex.org/W2066573264","https://openalex.org/W2076774723","https://openalex.org/W2092429734","https://openalex.org/W2094687406","https://openalex.org/W2162384969","https://openalex.org/W2227853156","https://openalex.org/W4211106425","https://openalex.org/W4298200447","https://openalex.org/W4301521751"],"related_works":["https://openalex.org/W2419015685","https://openalex.org/W2619493829","https://openalex.org/W2227853156","https://openalex.org/W4212993979","https://openalex.org/W2065371359","https://openalex.org/W1988264618","https://openalex.org/W4240489396","https://openalex.org/W2048351162","https://openalex.org/W4413626357","https://openalex.org/W2045423387"],"abstract_inverted_index":{"Dyggve-Melchior-Clausen":[0,17],"syndrome":[1,18],"without":[2],"mental":[3,22,121],"retardation":[4],"(Smith-McCort":[5],"dysplasia)":[6],"(SM)":[7],"has":[8,104],"clinical":[9],"and":[10,49],"radiographic":[11],"findings":[12],"similar":[13,94],"to":[14,95],"those":[15,96],"of":[16,37,47,75,84,100],"(DMC)":[19],"except":[20],"for":[21],"retardation.":[23],"Iliac":[24],"crest":[25],"biopsies":[26],"from":[27],"two":[28],"patients":[29],"with":[30,72,81,109],"SM":[31,48,103],"were":[32],"examined.":[33],"The":[34,65],"lace-like":[35],"appearance":[36],"the":[38,62,120],"iliac":[39],"crests,":[40],"which":[41],"is":[42,123],"a":[43,58,112],"characteristic":[44],"radiological":[45],"sign":[46],"DMC,":[50],"was":[51],"caused":[52],"by":[53],"bone":[54],"tissue":[55],"deposited":[56],"in":[57,98,107],"wavy":[59],"pattern":[60],"at":[61],"osteochondral":[63],"junction.":[64],"growth":[66],"plate":[67],"showed":[68],"abnormal":[69],"enchondral":[70],"ossification":[71],"no":[73],"columnarization":[74],"chondrocytes.":[76],"Electron":[77],"microscopy":[78],"demonstrated":[79],"chondrocytes":[80],"dilated":[82],"cisternae":[83],"rough":[85,113],"endoplasmic":[86,114],"reticulum":[87,115],"containing":[88],"fine":[89],"granular":[90],"or":[91],"amorphous":[92],"material,":[93],"reported":[97],"cases":[99],"DMC.":[101],"Thus,":[102],"pathologic":[105],"changes":[106],"common":[108],"DMC":[110],"as":[111],"storage":[116],"disorder,":[117],"even":[118],"though":[119],"condition":[122],"different.":[124]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":3},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":3},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
