Van der Hoeve's syndrome

Osteogenesis imperfecta, or brittle bones syndrome, occurs in four types. Of the several applicable eponyms choice usually depends upon those abnormalities that are most conspicuous. This is a dominant form of the syndrome, characterized by a combination of blue sclerae, brittle bones, and conductive deafness due to otosclerosis-like changes in the temporal bone, although one condition may be absent. The course is progressive, but many patients live to an advanced age. Osteogenesis imperfecta is one of the most frequent of the heritable disorders of connective tissue. The Ekman-Lobstein syndrome is an adult variant.

Details on the early evolution of the nomenclature is under Ekman-Lobstein syndrome. In 1896 John Spurway emphasised the association of skeletal fragility with blue sclerae. In 1900 Alfred Eddowes of London addressed the cause of the scleral blueness and proposed that it might be due to a defect of mesenchyme, while in 1912 Charles Adair-Dighton of Liverpool drew attention to the dominant mode of transmission of blue sclerae and the association with adult-onset deafness. In 1918 van der Hoeve and his colleague, de Kleyn of Utrecht, emphasised the syndromic relationship of brittle bones, blue sclerae and deafness in osteogenesis imperfecta tarda. Thereafter the eponymic term van der Hoeve was sometimes used, while the conjoined eponym van der Hoeve-de Kleyn was seldom used. Van der Hoeve's own eponym has now fallen into disuse.

See also Ekman-Lobstein syndrome, under Olof Jakob Ekman, Swedish physician, 1764-1839.

• J. Spurway:
  Hereditary tendency to fracture.
  British Medical Journal, London, 1896, 2: 844.
• A. Eddowes:
  Dark sclerotics and fragilitas ossium.
  British Medical Journal, London, 1900, 2: 222.
• C. Adair-Dighton:
  Four generations of blue sclerotics.
  Ophthalmoscope, 1912, 10: 188-189.
• J. van der Hoeve, A. de Kleyn:
  Blaue Skleren, Knochenbrüchigkeit und Schwerhörigkeit.
  Albrecht von Graefe Archiv für Ophthalmologie, Berlin, 1918, 95: 81.