Osteogenesis imperfecta Q78.0

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Brittle bone disease; congenital periosteal dystrophy; Congenital periosteal dystrophy; Dysplasia hereditary mesenchymal; fetal osteoporosis; Fragilitas ossium; hereditary mesenchymal dysplasia; Maladie de Porak et Durante; osteopathyrosis idiopathica (Lobstein); van der Hoeve Triad; Vrolik Syndrome

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Ekman 1788; Sartorius 1826; Lobstein 1849; Vrolik 1849;

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Very variable, hereditary connective tissue disease caused by various defects of type 1 collagen, characterized by brittle bones, blue sclerae and numbness.

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A distinction is made between:
  • Osteogenesis imperfecta congenita = type Vrolik. Fractures already in utero.
  • Osteogenesis imperfecta tarda = type Lobstein. Manifestation in infancy and toddler age.
    Other classifications are based on 4 types:
    • Type 1: Fractures and blue sclerae, mild course, dominant hereditary.
    • Type 2: Death in utero or shortly after birth, recessive inheritance.
    • Type 3: Fractures in early childhood, dominant or recessive inheritance.
    • Type 4: White sclerae, otherwise like type 1, dominant hereditary.

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Autosomal dominant, rare autosomal recessive inheritance. Mutations are present that relate to the alpha-1 or alpha-2 chain of collagen I. Further mutations for various proteins have been detected.

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Congenital or occurring in early childhood. The prevalence of about 1,15,000 births.

Clinical features
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Blue sclerae, brittle bones with fractures, often overstretchable joints, thin, overstretchable skin, macular skin atrophies, broad scars, numbness.

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Hydroxyproline elevation in the urine.

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Not possible.

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Type Vrolik unfavourable, type Lobstein more favourable.

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  1. Axmann von Wertheim E (1831) Strange fragility of bones without dyscrastic cause as a pathological peculiarity of three siblings. Ann complete Heilk (Karlsruhe) 4: 58-68
  2. Ekman PJ (1788) Dissertatio medica descriptionem et casus aliquot osteomalaciæ sistens. J. Edman, Upsaliae
  3. Kindelan J et al (2003) Orthodontic and orthognathic management of a patient with osteogenesis imperfecta and dentinogenesis imperfecta: a case report. J Orthodontic 30: 291-296
  4. Lobstein JF (1833) De la fragilité des os, ou l'ostéopsathyrose. Traité de l?anatomie pathologique: 2: 204-212
  5. Ries-Levavi et al (2004) Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. Hum Mutate 23: 399-400
  6. Sartorius CF (1826) Rachitides congenitae observationes. Dissertation, Medical Faculty of the University of Leipzig
  7. Spurway J (1896) Hereditary tendency to fracture. Br Med J (London) 2: 844
  8. Stilling H (1889) Osteogenesis imperfecta. Virchows Arch pathol Anat Physiol klin Medicin (Berlin) 115: 357
  9. Vrolik W (1849) Tabulae ad illustrandam embryogenesin hominis et mammalium, tam naturalem quam abnormem. Weigel, Londinck, Lipsiae

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Last updated on: 29.10.2020