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Osteogenesis Imperfecta

Osteogenesis Imperfecta

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Published by jalan_z
Osteogenesis Imperfecta
Osteogenesis Imperfecta

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Published by: jalan_z on Sep 29, 2009
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11/28/2012

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OsteogenesiOsteogenesissImperfectaImperfecta(OI)(OI)
 
Introduction
Osteogenesis imperfecta (OI)
, also knownas Brittle Bone Disease, "Lobstein syndrome”or Fragilitas ossium.
People with OI are born with defectiveconnective tissue, or without the ability tomake it, usually because of a deficiency of  Type-I collagen.
Occurs in 1:20,000 to 1:60,000 live births. OIcan affect males and females of all races.
 
Etiology
OI is mainly an
autosomaldominant
defect. Itcan alsobe an individual (
denovo
or"sporadic") mutation.
Penetrance and expressivityPenetrance and expressivityin type I OIin type I OI
 

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