Oldest medical description of osteogenesis imperfecta (17th Century, France).
Identifieur interne : 000046 ( Main/Exploration ); précédent : 000045; suivant : 000047Oldest 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
Affiliations:
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xml:lang="fr">Italie</country><wicri:regionArea>Department of Medicine, "San Giovanni di Dio" Hospital, Gorizia</wicri:regionArea><wicri:noRegion>Gorizia</wicri:noRegion></affiliation></author><author><name sortKey="Bianucci, Raffaella" sort="Bianucci, Raffaella" uniqKey="Bianucci R" first="Raffaella" last="Bianucci">Raffaella Bianucci</name><affiliation wicri:level="1"><nlm:affiliation>Department of Public Health and Pediatric Sciences, Legal Medicine Section, University of Turin, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Public Health and Pediatric Sciences, Legal Medicine Section, University of Turin</wicri:regionArea><wicri:noRegion>University of Turin</wicri:noRegion></affiliation></author></analytic><series><title level="j">Clinical anatomy (New York, N.Y.)</title><idno type="eISSN">1098-2353</idno><imprint><date when="2016" 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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><affiliations><list><country><li>France</li><li>Italie</li></country></list><tree><country name="France"><noRegion><name sortKey="Charlier, Philippe" sort="Charlier, Philippe" uniqKey="Charlier P" first="Philippe" last="Charlier">Philippe Charlier</name></noRegion></country><country name="Italie"><noRegion><name sortKey="Perciaccante, Antonio" sort="Perciaccante, Antonio" uniqKey="Perciaccante A" first="Antonio" last="Perciaccante">Antonio Perciaccante</name></noRegion><name sortKey="Bianucci, Raffaella" sort="Bianucci, Raffaella" uniqKey="Bianucci R" first="Raffaella" last="Bianucci">Raffaella Bianucci</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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