Osteogenesis Imperfecta: Causes, Types, and Treatment

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Osteogenesis Imperfecta:
So…If I hold you, I ´ll
break  you?
 
 
 
Osteogenesis Imperfecta
 
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This condition affects an
estimated 6 to 7 per 100,000
people worldwide.
Frecuency
 
Causes
 
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Mutations in the
COL1A1, COL1A2,
CRTAP,
 and 
P3H1
genes cause osteogenesis
imperfecta
 
 
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Type I Osteogenesis
 
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Type II Osteogenesis
 
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Type III Osteogenesis
 
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Type IV Osteogenesis
 
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Diagnosis
 
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Treatment
 
Osteogenesis Imperfecta has no
cure
An integral tratment of the
osteogenesis imperfecta should
be susteined fundamentally in 3
pillars:
pharmacollogical,
 orthopedic
rehabilitative treatment
 
Conclusions
 
Osteogenesis imperfecta (OI) is a group of genetic
disorders that mainly affect the bones
There are at least eight recognized forms, designated
type I through type VIII.
Types I and IV are the most common forms
Type II is the most severe  form
 
As curious fact….
 
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Osteogenesis Imperfecta is a genetic disorder affecting bones, with various types ranging from mild to severe. It is caused by mutations in specific genes and is characterized by bone fragility, fractures, and other skeletal deformities. Diagnosis involves clinical and genetic tests. Management includes supportive care with a focus on pharmacological and orthopedic rehabilitative treatments as there is no cure for the condition.

  • Osteogenesis Imperfecta
  • Genetic Disorder
  • Bone Fragility
  • Skeletal Deformities
  • Treatment

Uploaded on May 10, 2024 | 1 Views


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  1. Osteogenesis Osteogenesis Imperfecta: So So If If I I hold hold you break break you Imperfecta: you, I , I ll ll you? ?

  2. Osteogenesis Osteogenesis Imperfecta Imperfecta Is a group of genetic disorders that mainly affect the bones

  3. Frecuency Frecuency This condition affects an This condition affects an estimated 6 to 7 per 100,000 estimated 6 to 7 per 100,000 people worldwide. people worldwide.

  4. Causes Mutations in the Mutations in the COL1A1, COL1A2, COL1A1, COL1A2, CRTAP, CRTAP, and and P3H1 genes cause genes cause osteogenesis imperfecta imperfecta P3H1 osteogenesis

  5. Types There are at least eight recognized forms osteogenesis imperfecta, of

  6. Type I Osteogenesis Most common People who have type I disease generally reach normal height and have few obvious skeletal deformities Typically causes more fractures during childhood than in adulthood. Hearing loss is pronunced and begins early in childhood

  7. Type II Osteogenesis Most severe form Exhibits extreme bone fragility and frequent fractures Blue sclera may be present

  8. Type III Osteogenesis Is a severe and progressively deforming type Affected individuals suffer from multiple fractures that start from the initials years of their life

  9. Type IV Osteogenesis Similar to Type I Life expectancy is close to normal or completely normal Sclera-normal

  10. Diagnosis Clinical Genetic Tests X- Ray

  11. Treatment Osteogenesis Imperfecta has no cure An integral tratment of the osteogenesis imperfecta should be susteined fundamentally in 3 pillars: pharmacollogical, orthopedic rehabilitative treatment

  12. Conclusions Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones There are at least eight recognized forms, designated type I through type VIII. Types I and IV are the most common forms Type II is the most severe form

  13. As curious fact. May 6 is the International Day of Osteogenesis Imperfecta

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