also:
brittle bone disease [med.] - die Glasknochenkrankheit {wiss. Osteogenesis imperfecta}ICD-10
"Q 78 Other osteochondrodysplasias
Q78.0 Osteogenesis imperfecta Fragilitas ossium
Osteopsathyrosis"
http://www.who.int/classifications/apps/icd/i..."Q78- Sonstige Osteochondrodysplasien
Q78.0 Osteogenesis imperfecta Fragilitas ossium
Osteopsathyrosis"
http://www.dimdi.de/static/de/klassi/diagnose..."
osteogensis imperfecta (OI) a collagen disorder due to defective biosynthesis of type I collagen and generally characterized by brittle, osteoporotic, easily fractured bones. Other defects that may appear include blue sclerae, wormian bones, lax joints, and dentinogenesis imperfecta. OI is variable in manifestation and severity and has great molecular, genetic, and clinical heterogeneity. There are four major types (I–IV) plus variants of OI. Type I, the classic, most common, mildest type, is autosomal dominant; called also o. imperfecta with blue sclerae and o. imperfecta tarda. Its eponymic synonyms include Adair Dighton's, Eddowes', Ekman's, Lobstein's, Spurway's, and van der Hoeve's syndrome. Type II, the perinatal lethal type, has at least three clinical and genetic subtypes and may be an autosomal dominant trait, an autosomal recessive trait, or an autosomal dominant new mutation. The dominant type is also called o. imperfecta congenita, neonatal lethal form, and lethal perinatal OI. The recessive form is also called o. imperfecta congenita, Vrolik type of osteogenesis imperfecta, Vrolik's disease, and lethal perinatal OI. Type III, the progressive deforming type, may be autosomal recessive or a new mutation; called also o. imperfecta, progressively deforming, with normal sclerae. Type IV is an autosomal dominant form, called also o. imperfecta with normal sclerae."
Dorland's Illustrated Medical Dictionary. Copyright 2004. WB Saunders, an Elsevier imprint.
http://www.merckmedicus.com/pp/us/hcp/thcp_do..."
Osteogenesis imperfectaSyn.: Osteopsathyrosis
E:
osteogenesis imperfectaStörung im Aufbau des harten u. weichen Bindegewebes mit abnormer Knochenbrüchigkeit infolge gestörter Kollagensynthese. Genetisch uneinheitliche (dominante Mutationen verschiedener Kollagen-Typ-I-α-Ketten kodierender Gene auf den Chromosomen 17 u. 7), klinisch in 4 Typen eingeteilte Krankheitsbilder."
Roche Lexikon Medizin, 5. Aufl. © Urban & Fischer 2003
http://www.gesundheit.de/roche/
