Oldest medical description of osteogenesis imperfecta (17th Century, France).
Identifieur interne : 000016 ( PubMed/Curation ); précédent : 000015; suivant : 000017Oldest medical description of osteogenesis imperfecta (17th Century, France).
Auteurs : Philippe Charlier [France] ; Antonio Perciaccante [Italie] ; Raffaella Bianucci [Italie]Source :
- Clinical anatomy (New York, N.Y.) [ 1098-2353 ] ; 2016.
Abstract
Osteogenesis imperfecta (OI), also known as Lobstein's syndrome or Vrolik's syndrome, comprises a heterogeneous group of rare genetic connective tissue disorders. It is characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures of variable severity. Originally named "osteomalacia congenita," the condition was first medically described in a family by Ekman in 1778. Here, we report a 17th century medical account from France, which predates Eckman's doctoral dissertation by about a century. Medical analysis of this anatomical presentation indicates a precise diagnosis of Type I OI. Clin. Anat., 2016. © 2016 Wiley Periodicals, Inc.
DOI: 10.1002/ca.22806
PubMed: 27885708
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It is characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures of variable severity. Originally named "osteomalacia congenita," the condition was first medically described in a family by Ekman in 1778. Here, we report a 17th century medical account from France, which predates Eckman's doctoral dissertation by about a century. Medical analysis of this anatomical presentation indicates a precise diagnosis of Type I OI. Clin. Anat., 2016. © 2016 Wiley Periodicals, Inc.</div></front></TEI><pubmed><MedlineCitation Status="Publisher" Owner="NLM"><PMID Version="1">27885708</PMID><DateCreated><Year>2016</Year><Month>11</Month><Day>25</Day></DateCreated><DateRevised><Year>2016</Year><Month>11</Month><Day>26</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1098-2353</ISSN><JournalIssue CitedMedium="Internet"><PubDate><Year>2016</Year><Month>Nov</Month><Day>07</Day></PubDate></JournalIssue><Title>Clinical anatomy (New York, N.Y.)</Title><ISOAbbreviation>Clin Anat</ISOAbbreviation></Journal><ArticleTitle>Oldest medical description of osteogenesis imperfecta (17th Century, France).</ArticleTitle><ELocationID EIdType="doi" ValidYN="Y">10.1002/ca.22806</ELocationID><Abstract><AbstractText NlmCategory="UNASSIGNED">Osteogenesis imperfecta (OI), also known as Lobstein's syndrome or Vrolik's syndrome, comprises a heterogeneous group of rare genetic connective tissue disorders. It is characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures of variable severity. Originally named "osteomalacia congenita," the condition was first medically described in a family by Ekman in 1778. Here, we report a 17th century medical account from France, which predates Eckman's doctoral dissertation by about a century. Medical analysis of this anatomical presentation indicates a precise diagnosis of Type I OI. Clin. Anat., 2016. © 2016 Wiley Periodicals, Inc.</AbstractText><CopyrightInformation>© 2016 Wiley Periodicals, Inc.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Charlier</LastName><ForeName>Philippe</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Section of Medical and Forensic Anthropology (UVSQ & Paris-Descartes University EA 4569), Montigny-Le-Bretonneux, France.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>CASH & IPES, Nanterre, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Perciaccante</LastName><ForeName>Antonio</ForeName><Initials>A</Initials><AffiliationInfo><Affiliation>Department of Medicine, "San Giovanni di Dio" Hospital, Gorizia, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bianucci</LastName><ForeName>Raffaella</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Public Health and Pediatric Sciences, Legal Medicine Section, University of Turin, Italy.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>UMR 7268, Laboratoire d'Anthropologie Bio-culturelle, Droit, Etique & Santé (Adés), Faculté de Médecine de Marseille, France.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2016</Year><Month>11</Month><Day>07</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Clin Anat</MedlineTA><NlmUniqueID>8809128</NlmUniqueID><ISSNLinking>0897-3806</ISSNLinking></MedlineJournalInfo><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">genetic disorder</Keyword><Keyword MajorTopicYN="N">history of diseases</Keyword><Keyword MajorTopicYN="N">paleopathology</Keyword><Keyword MajorTopicYN="N">retrospective diagnosis</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year><Month>10</Month><Day>16</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2016</Year><Month>10</Month><Day>21</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2016</Year><Month>11</Month><Day>03</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2016</Year><Month>11</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2016</Year><Month>11</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>11</Month><Day>26</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>aheadofprint</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">27885708</ArticleId><ArticleId IdType="doi">10.1002/ca.22806</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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