HistoryThis section has been translated automatically.
Ekman 1788; Sartorius 1826; Lobstein 1849; Vrolik 1849;
DefinitionThis section has been translated automatically.
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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ClassificationThis section has been translated automatically.
- 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.
EtiopathogenesisThis section has been translated automatically.
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.
ManifestationThis section has been translated automatically.
Congenital or occurring in early childhood. The prevalence of about 1,15,000 births.
Clinical featuresThis section has been translated automatically.
LaboratoryThis section has been translated automatically.
TherapyThis section has been translated automatically.
Progression/forecastThis section has been translated automatically.
LiteratureThis section has been translated automatically.
- 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
- Ekman PJ (1788) Dissertatio medica descriptionem et casus aliquot osteomalaciæ sistens. J. Edman, Upsaliae
- 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
- Lobstein JF (1833) De la fragilité des os, ou l'ostéopsathyrose. Traité de l?anatomie pathologique: 2: 204-212
- Ries-Levavi et al (2004) Genetic and biochemical analyses of Israeli osteogenesis imperfecta patients. Hum Mutate 23: 399-400
- Sartorius CF (1826) Rachitides congenitae observationes. Dissertation, Medical Faculty of the University of Leipzig
- Spurway J (1896) Hereditary tendency to fracture. Br Med J (London) 2: 844
- Stilling H (1889) Osteogenesis imperfecta. Virchows Arch pathol Anat Physiol klin Medicin (Berlin) 115: 357
- Vrolik W (1849) Tabulae ad illustrandam embryogenesin hominis et mammalium, tam naturalem quam abnormem. Weigel, Londinck, Lipsiae
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