osteogenesis imperfecta

osteogenesis imperfecta is known as

Known as the “brittle bone” disease

Disorder of collagen synthesis leads to recurrent fractures and deformation

incidence of osteogenesis imperfecta

equal among males and females and racial/ethnic groups

etiology of osteogenesis imperfecta

Most inherit from parent (autosomal dominant inheritance)

25% of cases, genetic mutation occurs spontaneously

pathophysiology of osteogenesis imperfecta

due to defect in collagen

diagnostic tools for osteogenesis imperfecta

DNA testing

prenatal ultrasound

fetal 3 D scan

human chorionic villus biopsy

DEXA

X-ray films

type I osteogenesis imperfecta

most common

more mild

two types: A (teeth are normal) B (dentinogenesis imperfecta is a feature (abnormal tooth development))

mild-mod bone fragility

osteopenia

mild femoral bowing at birth

generalized ligamentous laxity with joint hypermobility

type II

most severe

lethal bc pulmonary complications from rib and vertebral fractures

severe bone fragility

intrauterine fractures common

respiratory and swallowing problems

what do babies look like at birth with type II

short limbs

small chests

soft skulls

what does the sclerae for type II look like

dark blue or gray

type III

severe form

from new mutations

fractures and deformities in utero

dentinogenesis imperfecta

healing impaired

severe osteopenia

severe disorganization of growth plate structure

bodily characteristics of type III

large skull — upper portion — triangular face

sclera color for type III

blue to pale blue sclerae

type III has progressive____

Kyphoscoloiosis

early onset of what in type III

hearing loss

stature of type III

very short

lifespan of type III

may be shortened due to respiratory conditions

sclera color type I

grayish blue sclera at birth

type I hearing

50% develop hearing loss by teens

type IV

moderate form

mild femoral bone bowing at birth

osteopenia occurs with aging

normal weight and length

moderate bone fragility

scoliosis

two subsets

• A: normal dentition

• B: dentinogenesis imperfecta (majority)

sclera of type IV

slightly gray sclerae

when is a diagnosis for type IV made

diagnosis can be made at birth but often happens later

mild bone what in type IV

mild bone angulation

when might a child fracture for type IV

not until walking

rare types of OI

type V, VI, VII, VIII, IX

type V

hyperplastic callus with fracture healing

normal sclerae and teeth

calcification of the interosseous membrane between ulna and radius

type VI

slightly blue sclerae

vertebral compression fractures

defective mineralization of the bony matrix with accumulation of osteoid

type VII VIII and IX all have

varied features

prognosis of types I and IV

milder course

longer lifespan

prognosis of type II

most severe, 90% die in first few weeks

type III prognosis

mortality related to cardiorespiratory failure stemming from kyphoscoliotic deformity.

• significant risk also exists of basilar invagination of the skull and intracranial bleeding

clinical features: ________ bones

brittle

clinical features: joint________

hypermobility

clinical features: skin

thin skin

clinical features: muscles

weak muscles

clinical features: diffuse_________

osteoporosis

clinical features: stature

shortened stature

clinical features: multiple and recurrent

fractures

clinical features: sclerae

blue

clinical features: teeth

deformed

clinical features: hearing

deafness

clinical features: development of _________

hernias

clinical features: in terms of bruising

easy brusing

clinical features: sweating

excessive sweating

clinical features: deformities

pectus deformity (funnel chest)

scoliosis

clinical features: metabolic and cardiovascular

metabolic — defects

• elevated serum pyrophosphate, decreased platelet aggregation

cardiovascular complications

• aortic and mitral valve insufficiency

  • etc.

clinical features: children with what types are born with with a triangular face

III or IV

clinical features: development of motor skills

often delayed

due to poorly developed muscles, hypermobility of joints, and multiple fxs requiring immobilization.

medical management for OI

nore cure

manage fractures

promote function and independence

treatment options of fractures

surgery

medications

healthy lifestyle

physical therapy

prevention is important!

what is rodding surgery

Metal rods inserted into long bones to control fractures and improve deformities associated with decreased function in OI patient

for progressive scoliosis…. what is NOT usually recommended

bracing

what may be indicated in severe cases for severe scoliosis

spinal rodding

meds that slow loss of bone; does not build new bone

reduces long bone fractures/vertebral compression

bisphosphonate drugs

other possible medications include

Growth hormones

Stem Cell therapies

Anti-sclerostin antibody

Current antibody studies

_________ needed to promote healing and maintain bone density

calcium

vitamin C

ambulation in Type I

Majorityofchildrenambulateeitheras functional or household ambulators

50% walk without any type of AD as community ambulators

children type III ambulation

~1⁄2 are dependent on power mobility, with only 27% becoming household ambulators

children type IV ambulation

26%are community ambulators & 57% household ambulators

most are household ambulators

what is the best predictor of ambulatory status

disease type and ability to sit by 9 or 10 months of age

in severely affected babies, the role of PT when transporting

use a covered pillow for transporting

DO precautions

Lift an infant by placing on hand under the buttocks and legs, and other under shoulders, neck, and head

DO NOT precautions

Push or pull on a limb

Lift an infant from under the armpits.

Lift an infant by the ankles. (ex: To change a diaper)

Perform activities that will jar or twist the spine.