Zusammenfassung
OsteoGnsis imperfecta (0I) is a heteroGnous group of inherited conditions arising from a variety of biochemical and morphological collagen defects. Historical investigation has been complicated by the fact that DI has been discussed under numerous eponyms. It was Willem Vrolik, professor of anatomy, pathological anatomy and zoology at the Athenaeum Illustre (University of Amsterdam), who described in his Handbook of Pathological Anatomy (1842–1844) and Tabulae ad illustrandam embryoGnsin hominis et mammalium,naturalem tam abnormem (1844–1849) a newborn infant with numerous fractures and hydrocephalus. The Amsterdam Gnral physician JJF La Cave donated the preserved specimen to his fatherGerardus Vrolik, professor of obstetrics and gynaecology. The specimen remained in the Museum Vrolikianum, the private collection of anatomy of Gerardus Vrolik, until Willem Vrolik dissected it. In the Tabulae,having both Latin and Dutch texts, in the Latin textVrolikused in the heading of plate 91 the term OsteoGnsis imperfecta.Vrolikalso mentioned that the infant lived three days and that both the parents were suffering from lues universalis at the time of birth, whereas a year later, the completely recovered mother gave birth to a healthy child. On our re-examination, the whole skeleton appeared poorly mineralised. The fairly large skull exhibited a broad and high forehead, large fontanels, frontal and temporal bossing, shallow orbits, and a protruding occiput. The calvaria consisted of many Wormian bones. The tubular bones, although of normal length and only slightly curved, were very thin, as were the ribs. All the skeletal structures showed one or more fractures and many fractures showed callus formation. In 1998 we diagnosed the condition of the specimen as osteoGnsis imperfecta type II.Willem Vrolikwas one of the first to realize that many skeletal dysplasias were not the result of a postnatal acquired disease, such as rickets or osteomalacia as many of his contemporaries believed. He thought that it might be due to insufficient intrinsic Gnrative energy. He substantiated this by stating that in this specimen a primary impairment of ossification is present and not a secondary deGnration. The descriptions given by Willem Vrolikin some of the specimens Gnrated the term OsteoGnsis
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Baljet, B. (2002). Willem Vrolik and „his“ Syndrome. In: Rauschmann, M.A., Thomann, KD., Zichner, L. (eds) Geschichte der Grenzgebiete der Orthopädie. Deutsches Orthopädisches Geschichts-und Forschungsmuseum (Jahrbuch), vol 4. Steinkopff, Heidelberg. https://doi.org/10.1007/978-3-642-57510-5_15
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