osteogenesis imperfecta blaue skleren - EAS
- Also known as: brittle bone disease, fragilitas ossiumContent medically reviewed by
Dr. Juhi Mehrotra
MD, PediatricsView full profile on
LinkedInInherited disorder which results in the formation of fragile bones that break easily.
Urgent medical attention is usually recommended by healthcare providers
Certain types can be dangerous or life threatening
Very rare (Fewer than 20,000 cases per year in US)
Treatments can help manage condition, no known cure
Requires lab test or imaging
Can last several years or be lifelong
Present at birth
Family history may increase likelihoodSource: Focus Medica . For informational purposes only. Consult a medical professional for advice. Learn more
- People also ask
- https://rarediseases.info.nih.gov/diseases/1017/osteogenesis-imperfecta
Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the development of the bones. People with this condition have bones that break easily, often …
Explore further
- https://www.hopkinsmedicine.org/health/conditions...
Osteogenesis imperfecta (OI) is an inherited (genetic) bone disorder that is present at birth. It is also known as brittle bone disease. A child born with OI may have soft bones that break …
- https://de.wikipedia.org/wiki/Osteogenesis_imperfecta
Da das Kollagen vom Typ I rund 90 % der Knochenmatrix ausmacht, ist das Hauptmerkmal der OI eine abnorm hohe Knochenbrüchigkeit. Das Synonym Glasknochen beschreibt sehr bildhaft sowohl die mechanischen Eigenschaften des wie Glas leicht zerbrechlichen Knochens als auch das Erscheinungsbild der Knochen auf Röntgenaufnahmen. Da bei der OI nur ungenügend schattengeb…
Wikipedia · Text under CC-BY-SA license- Q78.0: Osteogenesis imperfecta
- https://www.healthtap.com/questions/172600-what...
Dec 01, 2018 · Ophthalmology 53 years experience. Thin sclera: Osteogenesis imperfecta amongst its other problems, produces a thinning of the white outer coat of the eyeball, the …
- https://www.ncbi.nlm.nih.gov/medgen/541291
Osteogenesis imperfecta with blue sclerae AND normal teeth MedGen UID: 541291 •Concept ID: C0268356 Disease or Syndrome Recent clinical studies Etiology Novel variant in Sp7/Osx …
- https://medlineplus.gov/.../osteogenesis-imperfecta
When caused by mutations in the COL1A1 or COL1A2 gene, osteogenesis imperfecta has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the …
- https://www.nejm.org/doi/full/10.1056/NEJM199810013391405
Oct 01, 1998 · Blue Sclerae in Osteogenesis Imperfecta. Gudrun Leidig-Bruckner, M.D., and Andreas Grauer, M.D. Figure 1. A 26-year-old woman (Panel A) and her 6-year-old daughter (Panel B) were evaluated for ...
- https://link.springer.com/article/10.1007/s00132-013-2229-3
Jul 24, 2014 · Hinweisend auf eine OI sind Knochenbrüchigkeit, Kleinwuchs, Skoliose, Schädeldeformitäten, blaue Skleren, Hörverlust, Dentinogenesis imperfecta, vermehrte Laxität der Bänder und Haut. Meistens ist es möglich, …
- https://de.wikipedia.org/wiki/Blaue_Skleren
Die bekannteste und wohl häufigste Erkrankung, bei der blaue Skleren vorkommen können, ist die Osteogenesis imperfecta, die über dieses Merkmal beschrieben wurde. Weitere …
- https://pubmed.ncbi.nlm.nih.gov/33259008
Eine Osteogenesis imperfecta („Glasknochenkrankheit“) ist eine genetisch determinierte Erkrankung des Kollagenstoffwechsels, die zu Frakturen führt. Das klinische Spektrum ist sehr …
- Some results have been removed
