{"id":"https://openalex.org/W2312040610","doi":"https://doi.org/10.7863/jum.1994.13.6.419","title":"Variable prenatal appearance of osteogenesis imperfecta.","display_name":"Variable prenatal appearance of osteogenesis imperfecta.","publication_year":1994,"publication_date":"1994-06-01","ids":{"openalex":"https://openalex.org/W2312040610","doi":"https://doi.org/10.7863/jum.1994.13.6.419","mag":"2312040610","pmid":"https://pubmed.ncbi.nlm.nih.gov/8083940"},"language":"en","primary_location":{"id":"doi:10.7863/jum.1994.13.6.419","doi":"https://doi.org/10.7863/jum.1994.13.6.419","is_oa":false,"landing_page_url":"https://doi.org/10.7863/jum.1994.13.6.419","pdf_url":null,"source":{"id":"https://openalex.org/S111362775","display_name":"Journal of Ultrasound in Medicine","issn_l":"0278-4297","issn":["0278-4297","1550-9613"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2"],"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":"Journal of Ultrasound in Medicine","raw_type":"journal-article"},"volume":null,"type":"article","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/A5088446658","display_name":"Dorothy Bulas","orcid":"https://orcid.org/0000-0001-5003-2105","observed_orcids":["https://orcid.org/0000-0001-5003-2105"]},"institutions":[{"id":"https://openalex.org/I1336742384","display_name":"Children's National","ror":"https://ror.org/03wa2q724","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1336742384"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"D I Bulas","raw_affiliation_strings":["Department of Diagnostic Imaging and Radiology, Children's National Medical Center, Washington, DC 20010"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Diagnostic Imaging and Radiology, Children's National Medical Center, Washington, DC 20010","institution_ids":["https://openalex.org/I1336742384"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083635998","display_name":"Harvey J. Stern","orcid":"https://orcid.org/0000-0002-9366-2964","observed_orcids":["https://orcid.org/0000-0002-9366-2964"]},"institutions":[{"id":"https://openalex.org/I1336742384","display_name":"Children's National","ror":"https://ror.org/03wa2q724","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1336742384"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"H J Stern","raw_affiliation_strings":["Department of Diagnostic Imaging and Radiology, Children's National Medical Center, Washington, DC 20010"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Diagnostic Imaging and Radiology, Children's National Medical Center, Washington, DC 20010","institution_ids":["https://openalex.org/I1336742384"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111622585","display_name":"Kenneth N. Rosenbaum","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1336742384","display_name":"Children's National","ror":"https://ror.org/03wa2q724","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1336742384"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"K N Rosenbaum","raw_affiliation_strings":["Department of Diagnostic Imaging and Radiology, Children's National Medical Center, Washington, DC 20010"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Diagnostic Imaging and Radiology, Children's National Medical Center, Washington, DC 20010","institution_ids":["https://openalex.org/I1336742384"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109278813","display_name":"JANES. FONDA","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1336742384","display_name":"Children's National","ror":"https://ror.org/03wa2q724","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1336742384"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"J A Fonda","raw_affiliation_strings":["Department of Diagnostic Imaging and Radiology, Children's National Medical Center, Washington, DC 20010"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Diagnostic Imaging and Radiology, Children's National Medical Center, Washington, DC 20010","institution_ids":["https://openalex.org/I1336742384"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072471422","display_name":"Ronald B. J. Glass","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1336742384","display_name":"Children's National","ror":"https://ror.org/03wa2q724","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1336742384"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"R B Glass","raw_affiliation_strings":["Department of Diagnostic Imaging and Radiology, Children's National Medical Center, Washington, DC 20010"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Diagnostic Imaging and Radiology, Children's National Medical Center, Washington, DC 20010","institution_ids":["https://openalex.org/I1336742384"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5041456050","display_name":"Cynthia J. Tifft","orcid":"https://orcid.org/0000-0002-3931-1207","observed_orcids":["https://orcid.org/0000-0002-3931-1207"]},"institutions":[{"id":"https://openalex.org/I1336742384","display_name":"Children's National","ror":"https://ror.org/03wa2q724","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1336742384"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"C Tifft","raw_affiliation_strings":["Department of Diagnostic Imaging and Radiology, Children's National Medical Center, Washington, DC 20010"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Diagnostic Imaging and Radiology, Children's National Medical Center, Washington, DC 20010","institution_ids":["https://openalex.org/I1336742384"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I1336742384"],"apc_list":{"value":4100,"currency":"USD","value_usd":4100},"apc_paid":null,"fwci":0.5996,"has_fulltext":false,"cited_by_count":31,"citation_normalized_percentile":{"value":0.69143279,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"13","issue":"6","first_page":"419","last_page":"427"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11310","display_name":"Connective tissue disorders research","score":0.9955999851226807,"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":0.9955999851226807,"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/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.0034000000450760126,"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/T13107","display_name":"Congenital limb and hand anomalies","score":0.0005000000237487257,"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/osteogenesis-imperfecta","display_name":"osteogenesis imperfecta","score":0.9980000257492065},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.7540000081062317},{"id":"https://openalex.org/keywords/prenatal-ultrasound","display_name":"prenatal ultrasound","score":0.7459999918937683},{"id":"https://openalex.org/keywords/osteogenesis-imperfecta-type-iii","display_name":"osteogenesis imperfecta type III","score":0.9440000057220459},{"id":"https://openalex.org/keywords/type-i-collagen","display_name":"type I collagen","score":0.6330000162124634},{"id":"https://openalex.org/keywords/disease-severity","display_name":"disease severity","score":0.4880000054836273}],"concepts":[{"id":"https://openalex.org/C2777668750","wikidata":"https://www.wikidata.org/wiki/Q749409","display_name":"Osteogenesis imperfecta","level":2,"score":0.9797512888908386},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.9495024085044861},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.6370413899421692},{"id":"https://openalex.org/C2776260777","wikidata":"https://www.wikidata.org/wiki/Q3251367","display_name":"Osteochondrodysplasia","level":2,"score":0.5945298671722412},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.5613355040550232},{"id":"https://openalex.org/C46973012","wikidata":"https://www.wikidata.org/wiki/Q28627","display_name":"Gestation","level":3,"score":0.5199581384658813},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.4498714804649353},{"id":"https://openalex.org/C131872663","wikidata":"https://www.wikidata.org/wiki/Q5284418","display_name":"Obstetrics","level":1,"score":0.36199092864990234},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.3472898006439209},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.15919899940490723},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.0},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005264","descriptor_name":"Femoral Fractures","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D005264","descriptor_name":"Femoral Fractures","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":false},{"descriptor_ui":"D005269","descriptor_name":"Femur","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":false},{"descriptor_ui":"D005269","descriptor_name":"Femur","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":false},{"descriptor_ui":"D005315","descriptor_name":"Fetal Diseases","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":true},{"descriptor_ui":"D005865","descriptor_name":"Gestational Age","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010013","descriptor_name":"Osteogenesis Imperfecta","qualifier_ui":"Q000000981","qualifier_name":"diagnostic imaging","is_major_topic":true},{"descriptor_ui":"D010013","descriptor_name":"Osteogenesis Imperfecta","qualifier_ui":"Q000196","qualifier_name":"embryology","is_major_topic":false},{"descriptor_ui":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016216","descriptor_name":"Ultrasonography, Prenatal","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.7863/jum.1994.13.6.419","doi":"https://doi.org/10.7863/jum.1994.13.6.419","is_oa":false,"landing_page_url":"https://doi.org/10.7863/jum.1994.13.6.419","pdf_url":null,"source":{"id":"https://openalex.org/S111362775","display_name":"Journal of Ultrasound in Medicine","issn_l":"0278-4297","issn":["0278-4297","1550-9613"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-2"],"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":"Journal of Ultrasound in Medicine","raw_type":"journal-article"},{"id":"pmid:8083940","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/8083940","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 ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine","raw_type":"Case Reports"}],"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/W2032303817","https://openalex.org/W2009189940","https://openalex.org/W2006230378","https://openalex.org/W192473609","https://openalex.org/W2033019586","https://openalex.org/W2121093535","https://openalex.org/W1963704372","https://openalex.org/W1987502774","https://openalex.org/W7005223414","https://openalex.org/W2128662503"],"abstract_inverted_index":{"Osteogenesis":[0],"imperfecta":[1,38,55,125],"is":[2,126],"a":[3],"heterogeneous":[4],"group":[5,106],"of":[6,8,31,36,50,67,123,134],"disorders":[7],"type":[9,52,80],"I":[10],"collagen":[11],"with":[12,65,77,87,98],"both":[13],"lethal":[14,51],"and":[15,26,69,121,132],"nonlethal":[16,79],"forms.":[17],"Prenatal":[18],"sonographic":[19],"findings":[20],"in":[21,39,91,103,128],"affected":[22],"fetuses":[23,76],"are":[24],"variable":[25],"depend":[27],"on":[28],"the":[29,32,78,92,118,129],"severity":[30],"disease.":[33,136],"Six":[34],"cases":[35,49],"osteogenesis":[37,54,124],"which":[40],"prenatal":[41,130],"sonography":[42],"had":[43,84],"been":[44],"performed":[45],"were":[46],"reviewed.":[47],"Two":[48],"II":[53],"revealed":[56],"short":[57],"femurs":[58],"at":[59],"16":[60],"to":[61,112],"17":[62],"weeks'":[63,73],"gestation":[64],"development":[66],"bowing":[68,86],"fractures":[70],"by":[71],"19":[72],"gestation.":[74],"Four":[75],"III":[81],"or":[82,88,95],"IV":[83],"femoral":[85],"without":[89],"shortening":[90],"late":[93],"second":[94],"third":[96],"trimester":[97],"grossly":[99],"normal":[100],"mineralization.":[101],"Fractures":[102],"this":[104,135],"latter":[105],"did":[107],"not":[108],"develop":[109],"until":[110],"1":[111],"12":[113],"months":[114],"after":[115],"delivery.":[116],"Understanding":[117],"progressive":[119],"nature":[120],"variability":[122],"crucial":[127],"diagnosis":[131],"management":[133]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":1},{"year":2013,"cited_by_count":3}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}