title: Oldest medical description of osteogenesis imperfecta (17th Century, France).
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. 30:128-129, 2017. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Section of Medical and Forensic Anthropology (UVSQ & Paris-Descartes University EA 4569), Montigny-Le-Bretonneux, France.|CASH & IPES, Nanterre, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Charlier
authors.affiliation: Department of Medicine, "San Giovanni di Dio" Hospital, Gorizia, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Perciaccante
authors.affiliation: Department of Public Health and Pediatric Sciences, Legal Medicine Section, University of Turin, Italy.|UMR 7268, Laboratoire d'Anthropologie Bio-culturelle, Droit, Etique & Santé (Adés), Faculté de Médecine de Marseille, France.
authors.forename: Raffaella
authors.initials: R
authors.lastname: Bianucci
mesh_terms: D000328:Adult; D005260:Female; D005602:France; D049670:History, 17th Century; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000266:history*
keywords: genetic disorder; history of diseases; paleopathology; retrospective diagnosis