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Year : 2017  |  Volume : 18  |  Issue : 2  |  Page : 26-31

Osteogenesis imperfecta: A case report

Professor, College of Nursing, CMC, Vellore, India

Date of Web Publication9-Jun-2020

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Osteogenesis Imperfecta is a commonly inherited connective tissue disorder caused by mutations of COLIA 1 and 2, Cartilage Associated Protein (CRTAP) and also Leucine Proline Enriched Proteoglycan 1 genes. It is found to primarily affect the bones and increase bone fragility due to decreased bone mass and results in short stature. It is also found to be a systemic disorder as it results in dentinogenesis, hearing loss, restrictive pulmonary disease, scoliosis, and ocular complications. It is classified based on clinical, radiological, and genetic features. There are both conservative and surgical options available for its management. A team approach is needed to take care of these children as they have recurrent fractures, bowing deformities, and also systemic complications. This article will help one to know of the kind of expertise that is needed to look after the needs of these children.

Keywords: Osteogenesis Imperfecta, gene mutations, increased bone fragility, management

How to cite this article:
Sam PR. Osteogenesis imperfecta: A case report. Indian J Cont Nsg Edn 2017;18:26-31

How to cite this URL:
Sam PR. Osteogenesis imperfecta: A case report. Indian J Cont Nsg Edn [serial online] 2017 [cited 2021 May 8];18:26-31. Available from: https://www.ijcne.org/text.asp?2017/18/2/26/286266

  Introduction Top

Osteogenesis Imperfecta (OI) is a rare inherited connective tissue disorder that results in excessive fragility of the skeletal system due to defective synthesis of collagen. Lobstein in the year 1835 coined the term ‘Osteogenesis Imperfecta’ and was one among those who rightly understood the etiology of this condition. The earliest known case of OI is from a partially mummified infant’s skeleton from ancient Egypt which is currently placed in the British museum in London (Smith, Francis, & Houghton, 1983). The other names for this condition are Lobstein disease, Brittle-bone disease, Blue-sclera syndrome, and Fragile-bone disease.

  Incidence Top

The incidence of OI in developed countries like the U.S is estimated to be one per every 20,000 live births (National Library of Medicine, 2011). Type I is the most common. There is no race or ethnic group or gender that is spared. Correct figures of the condition in India is unavailable.

  Etiology Top

Etiology is based on the types of O I

  • Dominant O I is caused by mutations in the COL1A1 or COL1A2 gene encoding chain of type 1 collagen and its synthesis resulting in milder forms (Forlino, Cabral, Barnes, & Marini, 2011; Sillence, Senn, & Danks, 1979).
  • Recessive OI is caused by mutations of Leprecan (Leucineproline enriched proteoglycan) family members. Complete absence of CRTAP (Cartilage Associated Protein) causes lethal to severe recessive types (Barnes et al., 2010).

  Pathophysiology Top

OI is an inherited disorder of the connective tissue that occurs due to numerous gene defects resulting in abnormal synthesis of type I collagen molecules. The gene defects are caused by either deletions, mutations or insertions in the genes that control formation of type I collagen (Homan et al., 2011). Collagen is normally synthesised from three promolecules known as alpha chains that form a triple helix of type I procollagen intracellularly. The procollagen molecule thus formed is then exported from the cell to the extracellular environment where the triple helix region is cleaved from its propeptides and assembled into collagen microfibrils. These then polymerise with other types of collagen to form fibrils. Defect in this encoding process results in either insufficient normal molecules or an unstable molecule or molecules that will not form helices (Baldridge et al., 2010).

Milder form of the disorder occurs as a result of decreased synthesis of structurally normal type 1 procollagen molecules and severe forms are due to structural aberrations of the same. The effects of these abnormal collagen fibrils are seen in those tissues which are particularly dependant on collagen fibre integrity for normal function. It is a component of many tissues such as bone, dental enamel, sclera, skin, tendons, and ligaments which are affected (Marini, 2010).

  Clinical Features Top

The characteristic features vary greatly from one person to another. The majority of cases (85-90 %) are caused by a dominant mutation in a gene coding for type I collagen as types I, II, III, and IV in the following list (Sillence et al., 1979; Forlino et al., 2011). Types VII and VIII are inherited in a recessive manner (Glorieux et al., 1998). The general features of each type are is given in [Table 1].
Table 1: Clinical Features of Osteogenesis Imperfecta

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  Diagnosis Top

Diagnosis of this defect is generally made through history, physical examination, lab findings and imaging studies (Brusin, 2008). There can be a family history of any of the following conditions: Osteogenesis Imperfecta, fracture after minor trauma, bruising easily, hearing loss, bowing of long bones, fractures, limb shortening, decreased skull echogenicity, and dentinogenesis.

Laboratory investigations include collagen synthesis analysis that is performed by culturing dermal fibroblasts obtained during skin biopsy. Bone mineral density is done with Dual-Energy X-ray Absorptiometry (DEXA) scan. It is found to be low in both children and adults with OI. Prenatal DNA mutation analysis is done with samples that are obtained during chorionic villus sampling performed under ultrasonographic guidance. X-ray reveals thinning of long bones with thin cortices and presence of several wormian bones in mild cases. In moderate and severe cases, it reveals a popcorn appearance of the growth cartilage, fractures of the long bones, ribs, and vertebra. In some extremely severe cases, it reveals beaded ribs, broad bones, and numerous fractures with deformities of the long bones. Prenatal ultrasonography can be used to detect limb-length abnormalities at 15-18 weeks of gestation and may reveal polyhydraminos. Samples may show evidence of defects in modelling of external bone in terms of the size and shape. Histology shows increased diameter of Haversian canals and osteocyte lacunae, increased number of osteoblasts and osteoclasts, decreased number of trabeculae, and decreased cortical thickness.

  Treatment Top

Genetic counseling may be necessary for couples who have either personal or family history of OI to avoid pregnancy and childbirth as a preventive measure. Treatment is generally both conservative and surgical but nevertheless the goals involve the following (Cho et al., 2011; Hockenberry & Wilson, 2001; Maher, Salmond, &Pellino, 2002; Martinez-Soto, Pacaud, Stephure, Trussell, & Huang, 2011).

  • Prevention and control of the symptoms
  • Maximising mobility
  • Maintaining or increasing the bone mass
  • Maintaining muscle strength

The overall short term goal would be to decrease the occurrence of fracture and its related deformities; the long term goal would be to improve and bring about maximum independence and better social interaction. Intellectual stimulation and physical therapy are also essential components of the treatment process.

Conservative management involves the following

  • Fracture Care: As the bones become weak due to the pathological process it often results in frequent fractures for which casting, splinting, and bracing of these fractured bones may be a necessity.
  • Physiotherapy: These children may have delayed motor skills as their muscles are weak and they require regular exercises to strengthen both the lower and upper limbs. This is an absolute necessity towards independent ambulation. Mobility exercises should be directed toward improving joint mobility and developing muscle strength. There needs to be an overall emphasis in achievement of functional ability.
  • Bracing: Light weight braces help support limbs. These provide support for weak muscles and help keep the joints in proper alignment. This would allow mobility of these children with less or no pain.
  • Medication: Bisphosphonates inhibit the breakdown of bone and its resorption and thereby decreases incidence of fracture. It also reduces pain, increases strength, and bone density. Pamidronate is the most common drug used in treatment. E.g: Cyclic administration of intravenous Pamidronate reduces the incidence of fracture and increases bone mineral density, while reducing pain and increasing energy levels. Doses vary from 4.5-9 mg/kg/day depending on the protocol. While on treatment they should be monitored for allergic signs such as perioral numbness, seizures, chest pain, and increased temperature.
  • Activity: Swimming would be a good form of exercise and could be done in consultation with the physiotherapist for safety.
  • Diet: A nutritious well balanced diet is advised. Adequate calcium, vitamin D, and phosphorus intake are paramount. They need to avoid alcohol, smoking and caffeine consumption as these decrease bone strength. Caloric management is necessary in nonambulatory patients with severe Osteogenesis Imperfecta.
  • Gene based therapies: A new approach of replacing the mutated gene using stem cells and DNA is in progress.

Surgical treatment involves multiple osteotomies, realignment, and intramedullary fixation for correction of deformities and can also provide internal support to prevent fractures in the future. This seems to be a challenge as a child would have these rods becoming short as the bone grows or it can even migrate resulting in protrusion of the rods through the skin. The telescoping rods that can elongate as the growth occurs can be used to decrease the number of surgeries and its related risks. Management of related complications involve use of crowns for brittle teeth to prevent fracture and hearing aids for hearing loss.

  Case Study Top

A five year old boy presented with history of recurrent fractures involving the left and right elbow in the past after repeated falls. There was a supracondylar and lateral condylar fracture on the left and also a supracondylar fracture on the right making a total of three fractures. There is a family history of similar problems in the mother and maternal uncle. He was born to non-consanguineous parents with no perinatal problems. He weighed about 2.4 kg at birth and had no history of developmental delay. On examination he was found to be a well nourished child with typical blue sclera present. There was full range of motion of all the joints with no limb length discrepancy. Surgical scars were present both in the right and left elbow. He was admitted for Inj. Pamidronate infusion based on the blood calcium levels.

  Nursing Care Top

Nursing care specific to this condition can be rendered by a nursing process approach which identifies needs with the appropriate interventions needed (Wilson & Hockenberry, 2014; Maher et al., 2002).

1. Nursing Diagnosis: Parental anxiety related to multiple hospitalizations and surgeries

Objective: Anxiety is minimized as evidenced by acceptance of the child’s illness


  • Explained and informed the parents about the disease and its progression and treatment options
  • Encouraged the parents on safe handling to avoid injury
  • Listened to their concerns and needs and answered their questions
  • Provided support by referring them to other health care professionals as needed

Evaluation: Parents continued to be anxious as they were not able to accept the child’s condition. Support had to be constantly continued.

2. Nursing Diagnosis: High risk for injury related to disease process

Objective: Injury is prevented as evidenced by lack of trauma and related complications


  • Handled the child gently to prevent fractures
  • Supported the trunk when moving the child
  • Avoided pulling or dragging that would cause undue trauma
  • Taught the p arents s afety me asure s
  • Explained the need for supporting the extremity fully to avoid twisting or hyperextension
  • Advised the parents on the need for weight reduction to avoid fractures
  • Additional stabilization was provided at the IV insertion site

Evaluation: There were no injuries during the hospital stay.

3. Nursing Diagnosis: Social isolation related to increased risk for injury

Objective: Adequate participation is ensured as evidenced by socialization with other children


  • Advised the parents to allow him to mingle with other children
  • Identified activities of interest and encouraged him
  • Advised on activities that could safely be performed by the child in a group
  • Advised to avoid track or field events
  • Encouraged to have indoor social games and encouraged the parents to consider swimming as an option for the child as a means of exercise and socialisation

Evaluation: Parents understood the need for socialization and the child was observed to easily make friends with everyone during hospitalisation.

4. Nursing Diagnosis: Impaired physical mobility related to risk for injury

Objective: Mobility is maintained within the expected norms as evidenced by improved function


  • Assessed for muscle spasm
  • Encouraged range of motion exercises to be performed in a gentle manner
  • Encouraged muscle strengthening exercises
  • Integrated favorite activities into plans of physical mobility
  • Explained on the need for appropriate sizing of mobility aids to prevent use related injuries

Evaluation: Child was carried and was not allowed to walk as parents feared another fracture. Parents needed continuous encouragement to involve child in activities.

5. Nursing Diagnosis: Altered nutrition less than body requirement related to decreased mobility

Objective: Optimum nutrition is maintained as evidenced by appropriate weight for age


  • Advised on the need for well balanced diet
  • Advised on the need for Vitamin C, D, Calcium and Phosphorus rich diet for bone growth
  • Taught them on the need to avoid overweight as this can increase the risk for fracture
  • Exercise and play were integrated as tolerated to increase metabolism

Evaluation: He was slightly overweight for his age and parents recognized the need for recommended diet.

6. Nursing Diagnosis: Knowledge deficit related to homecare

Objective: Adequate information is provided and parents understanding of the condition and care will improve


Educated the parents on

  • Gentle handling of the chid
  • Avoid holding him under the armpits
  • Avoid pulling on arms or legs and lift the legs by the ankles
  • Need for car seat that reclines which is easy to place or remove the child in the seat
  • Use of a wheelchair that is large enough to accommodate the casted extremity
  • Adherence to the instructions given
  • Avoid over the counter drugs since it can have a negative impact on bone density (e.g., steroids)
  • Regular dental check up to identify chipping, fracture and caries as complications
  • Genetic counseling
  • The need for observing complications like respiratory infections, impairment of vision, hearing loss, hypertension, mitral valve prolapse, and hernias

Evaluation: Parents expressed that they had understood the instructions and they would comply with it.

  Conclusion Top

Mutations that occur in specific collagen chain causes mild connective tissue abnormalities and are dominant in nature and mutations in collagen modifying proteins cause recessive conditions. However, they do share many similarities and generally contribute to a spectrum of OI. There are other additional recessive forms that require further in depth study at genetic and molecular levels. A better understanding of conditions such as OI is essential to provide patient specific nursing care.

Conflicts of Interest: The author has declared no conflicts of interest.

  References Top

Baldridge, D., Lennington, J., Weis, M., Homan, E. P., Jiang, M. M., Munivez, E., & Krakow, D. (2010). Generalized connective tissue disease in Crtap-/-mouse. PloS one, 5(5), e10560.  Back to cited text no. 1
Barnes, A. M., Carter, E. M., Cabral, W. A., Weis, M., Chang, W., Makareeva, E., …& Marini, J. C. (2010). Lack of cyclophilin B in Osteogenesis Imperfecta with normal collagen folding. New England Journal of Medicine, 362(6), 521-528.  Back to cited text no. 2
Brusin, J. H. (2008). Osteogenesis Imperfecta. Radiologic Technology, 79(6), 535-548.  Back to cited text no. 3
Cho, T. J., Kim, J. B., Lee, J. W., Lee, K., Park, M. S., Yoo, W. J., … & Choi, I. H. (2011). Fracture in long bones stabilised by telescopic intramedullary rods in patients with Osteogenesis Imperfecta. Journal of Bone Joint and Surgery British Volume, 93(5), 634-638.  Back to cited text no. 4
Forlino, A., Cabral, W. A., Barnes, A. M., & Marini, J. C. (2011). New perspectives on osteogenesis imperfecta. Nature Reviews Endocrinology, 7(9), 540-557.  Back to cited text no. 5
Glorieux, F. H., Bishop, N. J., Plotkin, H., Chabot, G., Lanoue, G., & Travers, R. (1998). Cyclic administration of Pamidronate in children with severe Osteogenesis Imperfecta. New England Journal of Medicine, 339(14), 947-952.  Back to cited text no. 6
Hockenberry, M. J., & Wilson, D. (2001). Wong’s Essentials of Pediatric Nursing. USA: Mosby publishers.  Back to cited text no. 7
Homan, E. P., Rauch, F., Grafe, I., Lietman, C., Doll, J. A., Dawson, B., … & White, L. (2011). Mutations in SERPINF1 cause Osteogenesis Imperfecta type VI. Journal of Bone and Mineral Research, 26(12), 27982803.  Back to cited text no. 8
Maher, A. B., Salmond, S. W., & Pellino, T. A. (2002). Orthopaedic nursing. Philadelphia: Saunders.  Back to cited text no. 9
Marini, J. (2010). Osteogenesis Imperfecta. In F. Singer (Ed.), Diseases of bone and calcium metabolism. Retrieved from http ://www. endotext.org/ chapter/ osteogenesis -imperfecta/  Back to cited text no. 10
Martinez-Soto, T., Pacaud, D., Stephure, D., Trussell, R., & Huang, C. (2011). Treatment of symptomatic osteoporosis in children: A comparison of two Pamidronate dosage regimens. Journal of Pediatric Endocrinology and Metabolism, 24(5-6), 271 -274.  Back to cited text no. 11
National Library of Medicine. (2011). Osteogenesis Imperfecta. Retrieved May 7, 2012, from http ://www.nlm.nih.go v/medlineplus/ency/article/0015 73.htm  Back to cited text no. 12
Sillence, D. O., Senn, A., & Danks, D. M. (1979). Genetic heterogeneity in Osteogenesis Imperfecta. Journal of Medical Genetics, 16(2), 101-116.  Back to cited text no. 13
Smith, R., Francis, M. J., & Houghton, G. R. (1983). The brittle bone syndrome: Osteogenesis Imperfecta. London: Butterworths.  Back to cited text no. 14
Wilson, D., & Hockenberry, M. J. (2014). Wong’s clinical manual of paediatric nursing-e-book. USA: Elsevier Health Sciences.  Back to cited text no. 15


  [Table 1]


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