Aspects of the history of Osteogenesis imperfecta (Vrolik's syndrome)

Abstract

Osteogenesis imperfecta (OI) or Vrolik's syndrome is a heterogeneous group of inherited conditions arising from a variety of biochemical and morphological collagen defects. 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 embryogenesin hominis et mammalium, naturalem tam abnormem (1844-1849) a newborn infant with numerous fractures and hydrocephalus. In the Tabulae, having both Latin and Dutch texts, in the Latin text Vrolik used in the heading of Plate 91 the term Osteogenesis imperfecta (in Dutch: gebrekkige beenwording). Vrolik also mentioned that the infant lived three days and that both the parents were suffering from lues universalis at the time of birth. On our reexamination, 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 re-diagnosed the condition of the specimen as osteogenesis imperfecta type II. Willem Vrolik was 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 "generative energy." He substantiated this by stating that in this specimen a primary impairment of ossification is present and not a secondary degeneration. The descriptions given by Willem Vrolik in some of the specimens generated the term Osteogenesis imperfecta and the eponym Vrolik's syndrome for this genetic disorder characterized by increased fragility.