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Oldest medical description of osteogenesis imperfecta (17th Century, France)
Author(s) -
Charlier Philippe,
Perciaccante Antonio,
Bianucci Raffaella
Publication year - 2017
Publication title -
clinical anatomy
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.667
H-Index - 71
eISSN - 1098-2353
pISSN - 0897-3806
DOI - 10.1002/ca.22806
Subject(s) - osteogenesis imperfecta , medicine , osteomalacia , presentation (obstetrics) , bone mass , pediatrics , osteoporosis , surgery , anatomy
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.