Osteogenesis Imperfecta

Osteogenesis Imperfecta

• _______ disorder of the ______ tissue

• Incidence: ______

• Severeal _______tive factors have been identified for OI

• Often referred to as ______ bones dieases characterized by lax joints, weak muscles and diffuse _____porosis

• Inherited disorder of the connective tissue

  • Or novel mutation

• Incidence 1:10,000

• Several causative factors have been identified for OI

• Often referred to as brittle bones disease characterized by lax joints, weak muscles and diffuse osteoporosis

How many genetic types does OI have?

4

What genes does types I-IV affect?

COL1A1 and COL1A2

• Encode for type I collagen

Does types of V-XXI have an type I collagen defect?

no

OI Type I:

• ____ to ____bone fragility with few to several

  fractures

• Little or no ___ malformation

• Most fractures occur ____ puberty

• ____ birth height/weight

• Muscle ____ness

• Joint __xity

• F___ feet

• Dislocations and sprains

• Average ____ expectancy

• Associated with blue ____, _____face, and _____

  hearing loss

• Mild to moderate bone fragility with few to several

• fractures

• Little or no bone malformation

• Most fractures occur before puberty

• Normal birth height/weight

• Muscle weakness

• Joint laxity

• Flat feet

• Dislocations and sprains

• Average life expectancy

• Associated with blue sclera, triangle face, and conductive hearing loss

What is most severe form of OI?

Type II

• Extreme bone fragility

OI Type II:

• Most ____ form

  • Extreme ____ fragility

• Not _____ with life

• _% do not survive past 1 week

• Most severe form

  • Extreme bone fragility

• Not compatible with life

• 80% do not survive past 1 week

OI Type III:

• Often ____somal dominant

  • rarely _____

• ______re presentation

• Progressive de____ of long bones, skull, and spine

  • ____stature

• Dentino____ im____ ___%

• _____ loss common

• Kypho____ severe

  • May result in _____tory comprise

• Often autosomal dominant

  • rarely recessive

• Severe presentation

• Progressive deformity of long bones, skull, and spine

  • short stature

• Dentinogenesis imperfecta 45%

• hearing loss common

• Kyphoscoliosis severe

  • May result in respiratory comprise

OI Type IV:

• Mild to moderate bone ____ilty

  • ____ bone deformity

• Dentino____ im____ - common

• Variable ____ loss

• Prognosis for ambulation is ____

• Mild to moderate bone fragility

  • Long bone deformity

• Dentinogenesis imperfecta - common

• Variable hearing loss

• Prognosis for ambulation is excellent

REVIEW THIS CHART

OI Diagnosis:

• ____ manifestations

• ____ biopsy

• ID ____ defect or mutation present

• X-rays and bone scans

• show evidence of multiple old ____ and skeletal ____

• Clinical manifestations

• Skin biopsy

• ID collagen defect or mutation present

• X-rays and bone scans

• show evidence of multiple old fractures and skeletal deformities

Is there a cure for OI?

No

Medical Management of OI:

• ____ _____ vibration- being researched to increase bone density and strength

• ____ _____with intramedullary rods

  • Femur is best done after ____-___ y/o

  • _____ rods can be used to grow with patients

    • Complications with rotation and migration of rods ○

  • Early WB with orthotic support ASAP after surgery

• ____ deformities (50%)

  • ____ not usually recommended for scoliosis/kyphosis

• Whole body vibration- being researched to increase bone density and strength

• Internal fixation with intramedullary rods

  • Femur is best done after 4-5 y/o

  • telescoping rods can be used to grow with patients

    • Complications with rotation and migration of rods ○

  • Early WB with orthotic support ASAP after surgery

• Spinal deformities (50%)

  • Bracing not usually recommended for scoliosis/kyphosis

What kind of fractures may comprise respiratory and neural status?

Rib and skull fractures

Look over infacy slide (SLIDE 57)

LOOK AT INTERVENTION SLIDES

LOOK OVZER