8/8/2019 OSTEOGENESIS IMPERFECTA2
1/25
OSTEOGENESISIMPERFECTA
BSN 217- Group 66A
8/8/2019 OSTEOGENESIS IMPERFECTA2
2/25
O STEOGENESIS IMPERFECTA
Also known as Brittle Bone Disease
Osteogenesis imperfecta (OI) is a genetic disordercharacterized by bones that break easily becauseof the less production of collagen
COLLAGEN- is the major protein of the body'sconnective tissue and can be likened to theframework around which a building isconstructed
8/8/2019 OSTEOGENESIS IMPERFECTA2
3/25
O STEOGENESIS IMPERFECTA
CAUSES:dominant genetic defect (known as
autosomal dominant) in the genesresponsible for making collagen.
less collagen than normal, or a poorerquality of collagen than normal, canlead to weak bones that fractureeasily.
8/8/2019 OSTEOGENESIS IMPERFECTA2
4/25
T YPES OF OSTEOGENESIS IMPERFECTA TYPE 1
Sclera (whitesof the eyes)usually have ablue, purple,or gray tint.
8/8/2019 OSTEOGENESIS IMPERFECTA2
5/25
T YPES OF OSTEOGENESIS IMPERFECTA
TYPE 1
Tendencytoward spinalcurvature .Brittle teethpossible.
8/8/2019 OSTEOGENESIS IMPERFECTA2
6/25
T YPES OF OSTEOGENESIS IMPERFECTA
TYPE 1
Triangular face.Bones fractureeasily. Mostfractures occurbefore puberty.
Loose joints andmuscle weakness.
8/8/2019 OSTEOGENESIS IMPERFECTA2
7/25
T YPES OF OSTEOGENESIS IMPERFECTA
TYPE 1
Bone deformity absent orminimal.
Hearing loss possible,often beginning in early20s or 30s.Collagen structure is
normal, but the amountis less than normal .
8/8/2019 OSTEOGENESIS IMPERFECTA2
8/25
T YPES OF OSTEOGENESIS IMPERFECTA
Type II Most severe form.Frequently lethal at or shortly after birth, often
due to respiratory problems.Numerous fractures and severe bone deformity.Small stature with underdeveloped lungs.Tinted sclera.
Collagen improperly formed.
8/8/2019 OSTEOGENESIS IMPERFECTA2
9/25
OSTEOGENESIS IMPERFECTA TYPE 2
8/8/2019 OSTEOGENESIS IMPERFECTA2
10/25
T YPES OF OSTEOGENESIS IMPERFECTA
Type III Bones fracture easily. Fractures often present atbirth, and x-rays may reveal healed fractures
that occurred before birth.Short stature.Sclera have a blue, purple, or gray tint.Loose joints and poor muscle development in
arms and legs.Barrel-shaped rib cage.Triangular face.
8/8/2019 OSTEOGENESIS IMPERFECTA2
11/25
T YPES OF OSTEOGENESIS IMPERFECTA
Spinal curvature.Respiratory problems possible.Bone deformity, often severe.
Brittle teeth possible.Hearing loss possible.Collagen improperly formed.
8/8/2019 OSTEOGENESIS IMPERFECTA2
12/25
T YPES OF OSTEOGENESIS IMPERFECTA Type IVBetween Type I and Type III in severity.Bones fracture easily. Most fractures occur beforepuberty.Shorter than average stature.Sclera are white or near-white (i.e. normal incolor).
Mild to moderate bone deformity.Tendency toward spinal curvature.Barrel-shaped rib cage.
8/8/2019 OSTEOGENESIS IMPERFECTA2
13/25
OSTEOGENESIS IMPERFECTA TYPE IV
8/8/2019 OSTEOGENESIS IMPERFECTA2
14/25
T YPES OF OSTEOGENESIS IMPERFECTA
Type V Clinically similar to Type IV inappearance and symptoms of
OI.
Unusually large calluses(hypertrophic calluses) at thesites of fractures or surgicalprocedures. (A callus is an areaof new bone that is laid downat the fracture site as part of the healing process.)
8/8/2019 OSTEOGENESIS IMPERFECTA2
15/25
T YPES OF OSTEOGENESIS IMPERFECTA
Calcification of the membrane betweenthe radius and ulna (the bones of theforearm). This leads to restriction of forearm rotation.White sclera.Normal teeth.
Bone has a mesh-like appearance whenviewed under the microscope.
8/8/2019 OSTEOGENESIS IMPERFECTA2
16/25
T YPES OF OSTEOGENESIS IMPERFECTA
TYPE VI
Fish-scale appearance of bone under the
microscope.Extremely rare, moderate in severity, and onlyidentified through bone biopsy.
8/8/2019 OSTEOGENESIS IMPERFECTA2
17/25
T YPES OF OSTEOGENESIS IMPERFECTA
TYPE VIISevere or lethal bonedysplasia similar to type
II & III.Small head
circumference,exophthalmos,
white or light blue sclera.
8/8/2019 OSTEOGENESIS IMPERFECTA2
18/25
T YPES OF OSTEOGENESIS IMPERFECTA
TYPE VIII
Severe or lethal bone
dysplasia similar to typeII & III. West Africanorigin
8/8/2019 OSTEOGENESIS IMPERFECTA2
19/25
D IAGNOSTIC PROCE D URE
SKIN BIOPSY- to evaluate the amount andstructure of collagen
x -ray - a diagnostic test which uses invisibleelectromagnetic energy beams to produce images of internal tissues, bones, and organs onto film
an e x amination of the ear, nose, and throat (todetect hearing loss)
8/8/2019 OSTEOGENESIS IMPERFECTA2
20/25
D IAGNOSTIC PROCE D URE
Ul trasound Ultrasound examination of thefetus can detect Type II OI at about 14 to16weeks gestation and Type III OI at about 18 to 20weeks. Other forms of OI may be detectable if there are intrauterine fractures.
physical exammedical history, including pregnancy andchildbirth informationfamily history
8/8/2019 OSTEOGENESIS IMPERFECTA2
21/25
SKIN BIOPSY
8/8/2019 OSTEOGENESIS IMPERFECTA2
22/25
TREATMENT
Nonsurgical T r eatm ent
Medica l bisphosphonates
given to the child either by mouth orintravenously, slow down bone resorption.
decreases the number of fractures and bone pain.
must be administered by properly trained doctorsand require close monitoring.
8/8/2019 OSTEOGENESIS IMPERFECTA2
23/25
TREATMENT
Casting, bracing, orsplinting of fractures isnecessary to immobilizethe bone so that healingcan occur. Movementand weight bearing areencouraged as soon aspossible after fractures
to increase mobility anddecrease the risk of future fractures.
8/8/2019 OSTEOGENESIS IMPERFECTA2
24/25
TREATMENT
S urgical T r eatm e ntMeta l rods may beinserted in the long bones
of the arms and legs.( For severe cases. )
8/8/2019 OSTEOGENESIS IMPERFECTA2
25/25
N URSING MANAGEMENT