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Osteogenesis Imperfecta

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By Marianne Belleza, R.N.

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

Table of Contents

What is Osteogenesis Imperfecta?

Osteogenesis imperfecta now have additional genes that cause brittle bones and is slowly spreading across generations and countries.

  • It is also known as brittle bone disease, Lobstein syndrome, fragilitas ossium, Vrolik disease.
  • Osteogenesis imperfecta is characterized by bones that break easily often from little or no apparent cause.
  • Precise typing of osteogenesis imperfecta is often difficult and depends in large degree on the experience of the clinician.
  • Severity ranges from mild forms to lethal forms in the perinatal period.


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.


The classification system is not integrated into widespread use but offers significant streamlining of categories into intellectually satisfying divisions.

  • COL1A1/COL1A2. Type 1 collagen, which constitutes approximately 30% of the human body weight is defective in osteogenesis imperfecta.
  • Calcification of the intraosseous membranes. Patients with this form of osteogenesis imperfecta generally have moderate severity disease but frequently develop hyperplastic calluses in long bones after having a fracture or orthopedic surgery which involved osteotomies.
  • SERPINFI (Type VI). This is caused by homozygous mutation in SERPINF1 gene, and inheritance is autosomal recessive.
  • CRTAP/LEPTE1/PPIB (Type VII-IX). Cartilage-associated protein (CRTAP) is a protein required for prolyl-3-hydroxylation and with the protein products of the LEPRE1 and PPIB genes, forms a heterotrimeric protein that is crucial for proper post-translational modification of collagen I.
  • SERPINH1 (Type X). Genetic testing found a previously described homozygous mutation in the SERPINH1 gene.
  • FKBP10 (Type XI). This is caused by a homozygous mutation in the FKBP10 gene and is inherited in an autosomal recessive manner.
  • SP7 (Type XII). There are homozygous deletions in the SP7 gene and is inherited in autosomal recessive fashion.
  • BMP1 (Type XIII). This is caused by homozygous mutation in the BMP1 gene and is inherited in an autosomal recessive manner.
  • WNT1 (Type XV). This form is caused by homozygous or compound heterozygous mutations in the WNT1 gene and is inherited in an autosomal recessive manner.
  • CREB3L1 (Type XVI). CREB3L1 encodes the endoplasmic reticulum stress transducer protein OASIS which regulates the expression of type 1 procollagen.
  • SPARC (Type XVII). SPARC or secreted protein, acidic, cysteine-rich is a glycoprotein that binds to multiple matrix protein, including collagen I.

Statistics and Incidences

Osteogenesis imperfecta now affect people from different countries around the world.

  • In the United States, the prevalence of osteogenesis imperfecta is estimated to be 2 for every 15, 000 live births. However, the mild form is underdiagnosed.
  • Prevalence appears to be the same worldwide, although there may be an increased risk of recessive forms of osteogenesis imperfecta in populations with high degrees of consanguinity.
  • There are no differences based on sex that is reported.
  • There are no differences based on race reported.
  • The age when symptoms begin widely varies, as there are patients who do not have fractures until adulthood, while others may present with fractures during infancy.


Osteogenesis imperfecta is an inherited disorder.

  • Mode of inheritance. In types I to V osteogenesis imperfecta, the mode of inheritance is autosomal dominant and often involves a new dominant mutation.
  • Germ cell mosaicism. Germ cell mosaicism may be the explanation for cases occurring in families with healthy parents that have more than one child with osteogenesis imperfecta.
  • Somatic mosaicism. Somatic mosaicism has been noted in brainstem who have had multiple children with the same dominant form.

Clinical Manifestations

The clinical manifestations of osteogenesis imperfecta varies according to classification.

  • Bluish to whitish sclera. The hues of the sclera may vary, but the change in color can also occur in other diseases such as progeria and Menkes syndrome.
  • Dentinogenesis imperfecta. The teeth break easily and erode gradually.
  • Fractures. Over a lifetime numbers of fractures may reach a hundred or even more.
  • High pain tolerance. People with osteogenesis imperfecta may have a high tolerance for pain, as old fractures may be discovered in infants only after a radiograph ordered for an entirely different reason.
  • Height. Height is extremely variable with some patients having near-normal height and others having significantly short stature.


Complications of a patient with osteogenesis imperfecta include:

  • Respiratory infections. Repeated respiratory infections can be a complication of severe osteogenesis imperfecta.
  • Basilar impression. Basilar impression can cause brainstem compression and is a major neurologic complication in children with osteogenesis imperfecta.
  • HydrocephalusHydrocephalus can be communicating or non-communicating and sometimes requires CSF shunting.
  • Cerebral hemorrhage. Cerebral hemorrhage caused by birth trauma is another possible complication.

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. 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.
  • Ultrasonography. Prenatal ultrasonography can be used to detect limb-length abnormalities at 15 to 18 weeks gestation.

Medical Management

Because osteogenesis imperfecta is a genetic condition; it has no cure.

  • Nutrition. Nutritional evaluation and condition are paramount to ensure appropriate intake of calcium and vitamin D.
  • In utero bone marrow transplant. In utero bone marrow transplantation of adult bone marrow has been shown to decrease perinatal lethality.
  • RANKL inhibition. A preclinical study demonstrated that RANKL inhibition improves density and some geometric and biomechanical properties of oim/oim mouse bone but does not decrease fracture incidence when compared with placebo.

Pharmacologic Therapy

Drugs administered to patients with osteogenesis imperfecta include the following:

  • IV Pamidronate. Cyclic administration of intravenous pamidronate reduces the incidence of fracture and increases bone mineral density while reducing pain levels and increasing energy levels.
  • Risedronate. Oral bisphosphonates such as risedronate may have some effect in reducing fractures in patients with osteogenesis imperfecta.

Surgical Management

Orthopedic surgery is one of the pillars of treatment for patients with osteogenesis imperfecta.

  • 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.

Nursing Management

Care of patients with osteogenesis imperfecta is multidisciplinary.

Nursing Assessment

The nurse should assess the following in a patient with osteogenesis imperfecta:

  • History. Assess the patient’s medical history as osteogenesis imperfecta is a genetic disorder.
  • Physical assessment. Fracture is a common occurrence in a patient with osteogenesis imperfecta and symptoms can be detected in a physical exam.
  • Laboratory values. Laboratory results may reveal the occurrence of osteogenesis imperfecta.

Nursing Diagnosis

Based on the assessment data, the major nursing diagnosis are:

Nursing Care Planning & Goals

Main Article: 8 Fracture Nursing Care Plans

The major goals for the patient with osteogenesis imperfecta include:

  • Modify environment as indicated to enhance safety.
  • Be free of injury.
  • Display healthy teeth in good repair.
  • Verbalize and demonstrate effective dental hygiene skills.
  • Follow through on referrals for appropriate dental care.
  • Increase strength and function pf affected and/or compensatory body part.

Nursing Interventions

The nurse is responsible for the following:

  • Genetic counseling. Offer genetic counseling to the parents of a child with osteogenesis imperfecta so that germline mosaicism may be discussed, as this is the mechanism responsible for some patients with the apparent new dominant mutation.
  • Diet. Encourage adequate calcium, vitamin D, and phosphorus intake, and ensure appropriate caloric management.
  • Activity. Educate parents regarding positioning of the child in the crib and how to handle the child while avoiding fractures.


Expected patient outcomes include:

  • Modified environment as indicated to enhance safety.
  • Free of injury.
  • Displayed healthy teeth in good repair.
  • Verbalized and demonstrated effective dental hygiene skills.
  • Followed through on referrals for appropriate dental care.
  • Increased strength and function of affected and/or compensatory body part.

Discharge and Home Care Guidelines

Discharge instructions for the patient and the family include:

  • Physical therapy. Therapy should be directed toward improving joint mobility and developing muscle strength.
  • Nutrition. Periodic nutritional evaluation and intervention should be implemented.
  • Oral health. Patients with osteogenesis imperfecta require scrupulous oral hygiene and frequent follow up with a pediatric dentist who is familiar with the disorder.

Documentation Guidelines

The focus of documentation should include:

  • Individual risk factors, noting current physical findings.
  • Availability and use of resources.
  • Individual factors influencing dentition problems.
  • Description of oral cavity and structures.
  • Level of function, ability to participate in specific or desired activities.
  • Plan of care.
  • Teaching plan.
  • Individual responses to interventions, teaching, and actions performed.
  • Attainment or progress toward desired outcomes.
  • Modifications to plan of care.

See Also

Marianne leads a double life, working as a staff nurse during the day and moonlighting as a writer for Nurseslabs at night. As an outpatient department nurse, she has honed her skills in delivering health education to her patients, making her a valuable resource and study guide writer for aspiring student nurses.

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