Osteogenesis Imperfecta

Osteogenesis Imperfecta

Osteogenesis Imperfecta

Osteogenesis imperfecta (OI) also known as brittle bone disease, is a genetic disorder characterized by fragile bones that break easily.

Osteogenesis imperfecta is a disorder of bone fragility chiefly caused by mutations is the COL1A1 and COL1A2 that encode type I procollagen.

Osteogenesis imperfecta (OI) is a genetic disorder that results in fragile bones.

▪ OI affects both bone quality and bone mass
▪ It is a genetic disorder
▪ OI is the most common cause of osteoporosis and it is a generalised disorder of
connective tissue.
▪ Osteoporosis is fragility of the skeletal system and a susceptibility to fractures of the
long bones or vertebral compressions from mild or inconsequential trauma.

Osteogenesis Imperfecta bone 2


OI is caused by a mutation on a gene that affects the body’s production of collagen  found in bones and other tissues. People with OI have less collagen than normal or a  poorer quality than normal 

OI is caused by defects in or related to a protein called type 1collagen. Collagen is an  essential building block of the body. The body uses type 1 collagen to make bones  strong and to build tendons, ligaments and teeth.  

Certain gene changes or mutations cause the collagen defects 

About 80%-90% of OI cases are caused by autosomal dominant mutations in type 1  collagen genes, COL1A1 and COL1A2. These mutations cause the body to make  either abnormally formed collagen or too little collagen 

The remaining cases of OI are caused by autosomal recessive mutations in any of the  six genes ( SERPINF1 ,CRTAP ,LEPRE 1 ,PPIB ,SERPINH1 ,and FKBP10) 

These gene changes are inherited, or passed down from parents to their children. 


  • The autosomal dominant forms of OI occur equally in all racial and ethnic groups  whereas recessive forms occur predominately in ethnic groups with consanguineous  marriages. 
  • The west African founder mutation for type VIII OI has a carrier frequency of 1 in 200- 300 among African-Americans. 
  • The incidence of OI detectable in infancy is approximately 1 in 20,000


  • People with OI are born with defective connective tissue or without ability to make it,  usually because of deficiency of type 1 collagen. This deficiency arises from an amino  acid substitution of glycine to bulkier amino acids in the collagen triple helix  structure. 
  • The larger amino acid side-chains create steric hindrance that creates bulge in the  collagen complex, which in turn influences both the molecular Nano mechanics and  the interaction between molecules which are both compromised 
  • As a result, the body may respond by hydrolyzing the improper collagen structure. 
  • If the body doesn’t destroy the improper collagen, the relationship between the  collagen fibrils and hydroxyapatite crystals to form bone is altered, causing  brittleness.

Clinical Manifestations

❑ Short stature
❑ Weak tissues, fragile skin, muscle weakness and loose joints
❑ Bone deformities such as bowing of the legs
❑ Hearing loss
❑ Discolouration of the sclera, may be blue, purple in colour
❑ Curvature of the spine
❑ Breathing problem
❑ Easy bruising of skin
❑ Soft, discoloured teeth

Classification of OI

The silence classification divides OI into 4 types based on clinical and radiographic criteria.  Types V and VI were later proposed based on histologic distinctions.  

Osteogenesis imperfecta Type I (mild) 

OI type 1 is sufficiently mild that is often found in large pedigrees. Many type 1 families have  blue sclerae, recurrent fractures in childhood and presenile hearing loss (30%-60%). Other  possible connective tissue abnormalities include hyperextensible joints, easy bruising, thin  skin, scoliosis, hernia and mild short stature compared with family members. 

Osteogenesis imperfecta Type II (Perinatal Lethal)

  • Infants with OI type II maybe stillborn or die in the first year of life. Birth weight and  length are small for gestational age. There is extreme fragility of the skeleton and  other connective tissues. There are multiple intrauterine fractures of long bones  which have a crumpled appearance on radiographs. 
  • There are striking micromyelia and bowing of extremities; the legs are held abducted  at right angles to the body in the frog leg position. The skull is large for body size,  with enlarged anterior and posterior fontanels. Sclerae are dark blue-grey. 

Osteogenesis imperfecta Type III (Progressive Deforming

  • OI type III is the most severe non-lethal form of OI and results in significant physical  disability. Birth weight and length are often low normal. Fractures usually occur in  utero. There is a relative macrocephaly and triangular faces. 
  • Disorganization of the bone matrix results in a “popcorn” appearance at the  metaphysis 
  • All type III patients have extreme short stature 
  • Dentinogenetic imperfecta, hearing loss and kyphoscoliosis may be present or  develop over time  

Osteogenesis imperfecta Type IV (moderately severe) 

  • Patients with OI type IV can present with utero fractures or bowing of lower long  bones. They can also present with recurrent fractures after ambulation and have  normal to moderate short stature. 
  • Most children have moderate bowing even with infrequent fractures • Children with OI type IV requires orthopaedic and rehabilitation intervention. 
  • Fracture rates decrease after puberty. Radiographically they are osteoporotic and  have metaphyseal flaring and vertebral compressions. 
  • Patients with type IV have moderate short stature. Scleral hue maybe blue or white. 

Classification of OI

Forlino and Marini in 2015 offered an alternate way of understanding the genetics of  osteogenesis imperfecta by sorting into five functional categories as follows: 

  • Group A. These are the primary defects in collagen structure and function. 
  •  Group B. These are the collagen modification defects.
  • Group C. These are the collagen folding and crosslinking defects.
  • Group D. This group includes ossification or mineralization defects.
  • Group E. The group includes osteoblast development defects with collagen  insufficiency.

Assessment and Diagnostic Findings

Results of diagnostic tests on people with osteogenesis imperfecta are useful in ruling out  other metabolic bone diseases. 

  • Collagen synthesis analysis. Collagen synthesis analysis is performed by culturing dermal fibroblasts obtained during skin biopsy.
  • Prenatal DNA mutation analysis. Prenatal DNA mutation analysis can be performed in pregnancies with the risk of osteogenesis imperfecta to analyze uncultured chorionic villus cells.
  • Bone mineral density. (DEXA scan). A scan of the bones to check for softening. Bone mineral density, as measured with dual-energy radiographic absorptiometry, is generally low in children and adults with osteogenesis  imperfecta. 
  • X-ray. Images may reveal thinning of the long bones with thin cortices or it may reveal beaded ribs, broad bones and numerous fractures with deformities of the long bones. 
  • Biochemical testing which may include a skin sample to examine the collagen 
  •  Blood tests or urine tests; usually to rule out other conditions such as rickets

Differential Diagnosis
• Child abuse
• Rickets
• Scurvy
• Osteopetrosis
• Leukaemia
• Cushing syndrome

Treatment and Management

There is no cure for OI 

Aims of management  

  • To reduce fracture rate
  • prevent long bone deformities
  • minimize chronic pain
  • maximize functional capacity.

The main modalities of treatment can be grouped into medications, surgical intervention,  physical therapy, and experimental therapies.


▪ Bisphosphonate therapy 

It is the mainstay of pharmacologic fracture prevention therapy for most forms of OI.  Observational studies show that bisphosphonates for children reduced fracture frequency up  to 100%.  

▪ Intravenous pamidronate 

– For patients with all forms of OI, IV pamidronate is advised, except Type VI, in whom clinical  benefits are likely to outweigh potential long-term risks (i.e., those with long bone  deformities, vertebral compression fractures, and ≥3 fractures/year)  

Pamidronate is administered IV in cycles of 3 consecutive days at 2–4-month intervals  with doses ranging from 0.5–1 mg/kg/day, depending on age, with a corresponding  annual dose of 9 mg/kg.  

Smallest effective dose should be used, with careful monitoring of vertebral geometry  and long-bone fractures 

NOTE : Pre-treatment evaluation and monitoring  

Calcium and vitamin D intake are based on recommended dietary allowance for  child’s age (700–1300 mg/day calcium and 400–600 IU vitamin D) should be  supplemented before treatment is initiated if dietary intake is inadequate. Indices of  calcium homeostasis (e.g., calcium, phosphorous, and parathyroid hormone) and  renal function test should be assessed before initiation of treatment and followed  every 6–12 months.  

Calcium levels are to be assessed before each IV bisphosphonate infusion to assure  that child is not hypercalcaemic. 

Surgical intervention 

  • Management of fractures (with quick mobilization to prevent bone loss due to inactivity) and placement of intramedullary rods to prevent or correct long-bone deformities are advised. Telescoping rods is advised for patients older than >2 years  who are actively growing. Those with severe scoliosis may benefit from surgery.  
  • Intramedullary rod replacement. In patients with bowed long bones, intramedullary rod replacement may improve weight bearing and, thus, enable the child to walk at an earlier stage than he or she might otherwise. 
  • Surgery for basilar impression. This procedure is reserved for cases with neurologic deficiencies, especially those caused by compression of brain stem.
  • Correction of scoliosis. Correction of scoliosis may be difficult because of bone fragility, but spinal fusion injury may be beneficial in patients with severe disease. • In utero bone marrow transplant. In utero bone marrow transplantation of adult bone marrow has been shown to decrease perinatal lethality. 

Physical and occupational therapy 

  • Physical therapists are instrumental in designing physical activity program that minimizes fracture risk, ensuring mobilization to prevent contractures and bone loss from immobility. 
  • Occupational therapists can address impairments in activities of daily living secondary to upper or lower limb deformities.  

Experimental therapies 

  • Growth hormone

In a single randomized trial, thirty prepubertal children with OI (Types I, III, and IV) were  observed for 12 months during ongoing neridronate therapy and then randomized to  recombinant growth hormone (GH) plus neridronate or neridronate alone. 

Growth velocity were found to be significantly higher in the group that received GH  compared with control group, but no differences were observed in the fracture risk. 

  • Cell replacement therapies

Pilot study of allogeneic hematopoietic cell transplantation was performed in five children  with OI; three children had successful engraftment, and in these 3, improvements in growth  velocity and reduction in fracture rate were noted following transplantation. More clinical  research is needed for exploring this modality.


➢ Respiratory infections such as pneumonia
➢ Kidney stones
➢ Joint problems
➢ Hearing loss
➢ Eye conditions and vision loss
➢ Basilar invagination
➢ Brain stem compression
➢ Hydrocephalus

Nursing Care

Nursing Diagnosis 

Desired Outcomes 




Knowledge related  new diagnosis of  


imperfecta, as  

evidenced by  


verbalization of “I  want to know more  how to manage my  illness.”

At the end of the  health teaching  

session, the patient  will be able to  


sufficient knowledge  of his/her condition and its  


Assess the patient’s  readiness to learn,  misconceptions, and  blocks to learning  (e.g. denial of  

diagnosis or poor  lifestyle habits)

To address the  

patient’s cognition  and mental status  towards disease  

management and to  help the patient  

overcome blocks to  learning


intolerance related  to bone pain, as  

evidenced by bone  pain score of 7 out  of 10, fatigue,  

disinterest in ADLs  due to pain,  

verbalization of  

tiredness and  



The patient will  


active participation  in necessary and  

desired activities and  demonstrate  

increase in activity  levels

Assess the patient’s  activities of daily  

living, as well as  

actual and perceived  limitations to  

physical activity. Ask  for any form of  

exercise that he/she  used to do or wants  to try. 


progressive activity  through self-care  and exercise as  

tolerated. Explain  the need to reduce  sedentary activities  such as watching  television and using  social media in long  periods. 


analgesics as  

prescribed prior to  exercise/ physical  activity.  

Teach deep  

breathing exercises  and relaxation  


To create a baseline of activity levels and  mental status related  to chronic pain,  

fatigue and activity  intolerance. 

To gradually  

increase the  

patient’s tolerance  to physical activity. 

To provide pain  

relief before an  

exercise session.  

To allow the patient to relax while at rest  and to facilitate  

effective stress  



Provide adequate  ventilation in the  


To allow enough  

oxygenation in the  room.

Acute Pain related to  the fragility of the  bones evidenced by  pain score of 7 out  of 10, verbalization  of sharp pain,  

guarding sign on the  affected areas  

especially long  

bones, facial  

grimace, crying, and  restlessness

The patient will  

demonstrate relief of  pain as evidenced by  a pain score of 0 out  of 10, stable vital  

signs, and absence  of restlessness.


prescribed pain  


Assess the patient’s  vital signs and  

characteristics of  

pain at least 30  

minutes after  

administration of  medication. 

Place the patient in  complete bed rest  during severe  

episodes of pain.

To alleviate  

acute/chronic bone  pain. Pain is usually  described as sharp  and spasmic. 

To monitor  

effectiveness of  

medical treatment  for the relief of bone  pain. The time of  

monitoring of vital  signs may depend  on the peak time of  the drug  


To enable to patient  to rest and to  

provide comfort.

Risk for injury  

related to fragile  


The patient will be  able to prevent  

injury by means of  exercising falls  

prevention protocols  and maintaining  

his/her treatment  regimen in order to  regain normal  

balance and healing.

Complete a falls risk  assessment, which  includes: 

Factors contributing  to falls risk 

Functional ability 

Use of mobility  


Use of bedrails 

Put the bed at the  lowest level. 

Place items within  the patient’s reach.

The use of a  

standard tool will  help identify the  

status of the  

patient’s risk for  

falling and will help  determine the  

factors contributing  to the falls risk. 

Low set beds reduce  the possibility of  

injuries related to  falls. 

Items far away from  the patient’s reach  may contribute to  falls and fall-related  injuries.


Refer to  

physiotherapy and  occupational  


Patients with  

fracture may need  therapies to help  them regain  

independence and  lower their risk for  injury.

Impaired Physical  Mobility related to  vertebral and joint  inflammation as  

evidenced by severe  leg pain rated 8 out  of 10, leg muscle  weakness, failure to  perform ADLs, and  verbalization of  


Patient will maintain  or regain functional  mobility.

Perform a mobility  assessment. Assess  the patient’s  

function ability to  perform activities of  daily living (ADLs)  such as eating,  

bathing, oral and  perineal care. 

Refer the patient to  the physiotherapist.

To identify patient’s  current strengths  and problems  

related to  

performing ADLs 

To provide  

specialized care and  individualized  

exercise program.

Practice Test: Osteogenesis Imperfecta

1. The nurse is teaching the parents of a newborn with osteogenesis imperfecta. The nurse should tell the parents:

A. That the baby will need daily calcium supplements.
B. To lift the baby by the buttocks when diapering.
C. That the condition is a temporary one.
D. That only the bones are affected by the disease.

1. Answer: B. To lift the baby by the buttocks when diapering.

  • Option A is incorrect because children with osteogenesis imperfecta have normal calcium and phosphorus levels.
  • Option C is incorrect because the condition is not temporary.
  • Option D is incorrect because the teeth and the sclera are also affected.

2. The home health nurse is visiting an 18-year-old with osteogenesis imperfecta. Which information obtained on the visit would cause the most concern? The client:

A. Likes to play football.
B. Drinks several carbonated drinks per day.
C. Has two sisters with sickle cell trait.
D. Is taking acetaminophen to control pain.

2. Answer: A.  Likes to play football.

The client with osteogenesis imperfecta is at risk for pathological fractures and is likely to experience these fractures if he participates in contact sports.

  • Options B, C, and D are not factors for concern.

3. A patient presents with multiple fractures and blue sclera of the eye. The same disease in infants would result in:

A. Death.
B. A, C, D.
C. Fractures.
D. Blue sclera.

3. Answer: B. A, C, D.

Death, fractures, and blue sclera can all occur in a patient with osteogenesis imperfecta.

  • Options A, C, D: All options can be found in a patient with osteogenesis imperfecta.

4. What bone disorder is caused by an autosomal dominant defect in the synthesis of collagen type 1?

A. Osteogenesis imperfecta.
B. Achondroplasia.
C. Osteopetrosis.
D. Osteomyelitis.

4. Answer: A. Osteogenesis imperfecta.

Osteogenesis imperfecta can be caused by an autosomal dominant defect in the synthesis of collagen type 1.

  • Option B: The FGFR3 gene instructs your body to make a protein necessary for bone growth and maintenance. Mutations in the FGFR3 gene cause the protein to be overactive. This interferes with normal skeletal development.
  • Option C: Osteopetrosis, literally “stone bone”, also known as marble bone disease and Albers-Schönberg disease, is an extremely rare inherited disorder whereby the bones harden, becoming denser, in contrast to more prevalent conditions like osteoporosis, in which the bones become less dense and more brittle, or osteomalacia, in which the bones soften. Osteopetrosis can cause bones to dissolve and break.
  • Option D: Most cases of osteomyelitis are caused by staphylococcus bacteria, types of germs commonly found on the skin or in the nose of even healthy individuals.

5. Which drug reduces the incidence of fracture and increases bone mineral density, while reducing pain levels and increasing energy levels?

A. Risedronate.
B. Gentamycin.
C. Tramadol.
D. Pamidronate.

5. Answer: D. Pamidronate.

Cyclic administration of intravenous pamidronate reduces the incidence of fracture and increases bone mineral density while reducing pain levels and increasing energy levels.

  • Option A: Oral biphosphates such as risedronate may have some effect in reducing fractures in patients with osteogenesis imperfecta.
  • Option B: Gentamycin is an antibiotic that reduces the signs and symptoms of infection.
  • Option C: Tramadol is an opioid pain medication used to treat moderate to moderately severe pain.
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