A juvenile with compromised osteogenesis provides insights into past hunter-gatherer lives.

The Late Archaic in northeastern North America (4500-2800 B.P.) pre-dates reliance on pottery and domesticated plants. It is thought to reflect a highly mobile, seasonal migratory foraging/hunting regimen. A juvenile skeleton with pervasive bone wasting and fragile jaws from the Hind Site (AdHk-1), ca. 3000 B.P., southwestern Ontario, provides evidence of the social context of her family group, including aspects of mobility and food management. The well-preserved bones and teeth are considered in bioarchaeological context. Radiographic, osteometric and cross-sectional geometric approaches to assessing musculoskeletal function are presented, plus differential diagnosis of the bone wasting condition. All bones of the probable female (aged approx. 16yr) show stunting and wasting. Wedged lower vertebral bodies, porous trabeculae, undeveloped bicondylar angles (femur) and abnormally low cortical long bone mass are consistent with chronically reduced ambulation. Few teeth remain in the dramatically resorbed alveoli; slight tooth wear and substantial calculus suggest a modified (soft) diet. Osteogenesis imperfecta type IV is the most probable etiology. The extended survival of this juvenile who may never have walked reflects collective care. The case provides evidence of a past lifeway that appears to have been organized around logistic mobility, including occupational stability and food storage.

Oldest medical description of osteogenesis imperfecta (17th Century, France).

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.

History of osteogenesis imperfecta or brittle bone disease: a few stops on a road 3000 years long.

The attested history of osteogenesis imperfecta began three thousand years ago and it continues down to the present day. Through the centuries, we find a dislocated mummy of a child of Ancient Egypt, a young Arab named Satib, a Viking prince known as "Boneless", a subject of Louis XIV with a broken skeleton and finally, in the 20th century, a young deaf mother with blue sclerotics and a jazz pianist unable to walk except on crutches... Without being exhaustive, this review of contrasting cases attests to the universality and to the permanency of this disease.

Aspects of the history of osteogenesis imperfecta (Vrolik's syndrome).

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.

Digital data and the 19th century teratology collection.

The golden age of descriptive teratology (congenital anomalies) was between 1750 and 1850. During that period, the study of human congenital malformations, especially those dramatic examples designated as 'monsters', attracted special attention. One of the finest collections in this field was Museum Vrolikianum, the collection of father and son, Gerardus (1775-1859) and Willem Vrolik (1801-1863). Willem, a specialist in teratology, described many of these specimens in his Handbook of Pathological Anatomy (1844) and his teratology atlas Tabulae ad illustrandam embryogenesin hominis et mammaliam tam naturalem quam abnormem (1849). This collection is still an integral part of the Museum Vrolik in the Academic Medical Center in Amsterdam. From 1991 to 1994, the collection of congenital anomalies was re-catalogued and re-described according to contemporary syndromological views. We diagnosed rare syndromes with multiple congenital anomalies, rare skeletal dysplasias, closure defects of the neural tube and conjoined and acardiac twins. We came to the conclusion that some anomalies of the conditions diagnosed have been reported only a few times. Certain cases demonstrate relationships between different malformations, and provide critical 'missing links' in the teratological series. For the diagnosis of the clinical syndromes in some of the specimens magnetic resonance imaging (MRI), computed tomography (CT), spiral CT and radiographical techniques were of crucial importance and are discussed in this paper.

Osteogénesis imperfecta: puesta al día, a propósito de la observación de un caso / Osteogenesis imperfecta: update

A propósito de la observación de una forma rara de osteogénesis imperfecta (OI) se recurre a la literatura mundial y se toma la clasificación de Sillence, quien propone la división en 4 grupos de los distintos síndromes descriptos hasta el presente. Se reproducen los consejos de: The OI Society of New South Wales, de OI Foundation Inc. (USA), de The Brittle Bone Society (USA), de The Brittle Bone Society de Inglaterra, Noruega y Sudáfrica. Al final se presenta el caso perteneciente al relator y se lo encuadra siguiendo la clasificación de Sillence

Osteogenesis imperfecta: historical background.

Approximately 100 years of observation and investigation have demontrated that the terms osteopsathyrosis idiopathica and OI refer to the same disease process. Classically, three cardinal symptoms have been described: bone fragility, blue sclerae and deafness. It is now known that this combination of findings is most likely to appear in patients with the milder form of the disease, and even in this group only some of the patients have all three symptoms. Historically, a hereditary mesenchymal defect transmitted by autosomal dominance has been implicated in the etiology.