A congenital bone disease of generalised hypostosis in which thick bones are abnormally brittle and subject to fractures. Other features include short-limb dwarfism, deformed extremities, large caput membranaceum (caoutchouc head), wide fontanels, muscle hypotonia, proptosis, blue sclerae, small nose with depressed bridge, and inguinal hernia. The affected infants are born with numerous fractures and are usually born dead or survive only for a few days. Inheritance is autosomal recessive.
In 1849 Vrolik published a treatise on embryogenesis and depicted the skeleton of an infant with multiple fractures in the long bones, and Wormian bones in the skull. In 1905 Porak and Durante described the same condition, using the misnomer "achondroplasia" and thereafter these authors' names were sometimes applied to the disorder, especially in the French literature. This form has now been abandoned.
- W. Vrolik:
Tabulae ad illustrandam embryogenesin hominis et mammalium, tam naturalem quam abnormem.
Amsterdam, G. M. P., Londinck, 1849; Lipsiae, Weigel, 1854 (German and Latin).
Won a Monthyon prize in Paris. The 100 plates of this volume contain some of the most accurate and beautiful depictions of human and animal malformations ever published.
- B. Porak, G. Durante:
Les micromélies congénitales. Achondroplasie vraie et dystrophie périostale.
Nouvelle iconographie de la Salpêtrière, Paris, 1905, 18: 181-538.
- Emil Looser (1877-1936):
Zur Kenntnis der osteogenesis imperfecta congenita et tarda.
Mittheilungen aus dem Grenzgebieten der Medizin und Chirurgie, 1906, 15: 161-207. For extensive bibliography of osteogenesis imperfecta, see Ekman-Lobstein syndrome, under Olof Jakob Ekman, Swedish physician, 1764-1839.