Osteogenesis Imperfecta: Causes, Symptoms, Types, Diagnosis, Treatment, How To Take Care of Children

Osteogenesis Imperfecta– This is a genetic pathological condition of bones in which affected people tend to have bones which are inadequately formed.¹ In this condition, the bones tend to get fractured easily.

The meaning of Osteogenesis Imperfecta or Brittle Bone Disease is imperfectly formed bone, which itself explains the meaning of this condition which is the bones in the body are inadequately formed.² This condition is brought on mainly because of a genetic defect which hampers the ability of the body to form strong bones. Some individuals may have a severe form of this condition where they will break their bones very easily and may end up having frequent fractures. Individuals with mild forms of this disease have fewer fractures when compared to individuals with severe form of Osteogenesis Imperfecta.

Osteogenesis Imperfecta is caused due to malfunction of a protein called type-I collagen.³ This protein plays a major role in formation of strong and healthier bones along with formation of ligaments, teeth, and sclera. Due to a defective gene, there is not enough production of this protein resulting in formation of fragile and brittle bones, which tends to break easily. In majority of cases of Osteogenesis Imperfecta, the children inherit this defective gene from the parents. There have been instances where a child diagnosed with Osteogenesis Imperfecta or Brittle Bone Disease does not have parents with this disease. In such cases, there is spontaneous mutation of the gene resulting malfunctioning protein.

• Short stature
• Face shaped like a triangle
• Breathing difficulties
• Hearing loss
• Brittle teeth
• Bone deformities

Osteogenesis Imperfecta Type I: This is the mildest form of this disease. In this type, the structure of the collagen protein is normal but there is less production of the protein than normal. In this type, there is very minimal bone deformity, although the bones may be fragile and can be easily broken. In this type, the whites of the eyes may have a blue or a purple tinge to it.

Osteogenesis Imperfecta Type II: This is the most severe form of the disease. In this type, the collagen protein is not produced appropriately. There may be fractures noticed even in the fetus. The survival rate of many infants with this type of Osteogenesis Imperfecta is very low.

Osteogenesis Imperfecta Type III: This type of Osteogenesis Imperfecta also has inappropriately formed collagen protein and there are severe deformities of the bone along with other potential complications. Apart from the usual bone deformities, there may also be spinal deformities, respiratory difficulties, and fragile teeth.

Osteogenesis Imperfecta Type IV: This type of Osteogenesis Imperfecta is moderately severe. In this type also the collagen is formed inadequately. Bones tend to break easily but in this type the eyes are usually normal.

To diagnose Osteogenesis Imperfecta, the treating physician may conduct a detailed history and physical examination where the physician may discuss about the family history to look for inheritance of the disease. During physical examination, the physician will look for abnormalities in the eyes and also look for brittle teeth.

Apart from a detailed history and physical examination, x-rays will be ordered to look for any deformities of the bone. Tissue samples may be taken to look for genetic defect.

Ultrasound can also be done for severe cases of Osteogenesis Imperfecta at the time of pregnancy, especially if there is a family history of this disease.

Majority of cases of Osteogenesis Imperfecta is treated nonsurgically with the help of following:

Medication: Bisphosphonate is given to the child. This medication helps with fractures and pain in the bones. This is given either orally or intravenously.

Immobilization: Immobilization is done by bracing, splinting, or casting so that the bones do not move and get displaced and healing takes place at a faster rate.

Exercise: After healing of the fracture, the physical therapist formulates an exercise plan to increase mobility and decrease risk of future fractures. Low impact exercises like swimming or walking strengthens the bones and the muscles.

Surgical Treatment For Osteogenesis Imperfecta: Surgical treatment is recommended in cases of the following:

• Frequent fractures of same bone
• Improper healing of fractures
• Bone deformities like scoliosis

The following steps may be taken while handling a baby with Osteogenesis Imperfecta or Brittle Bone Disease:

• One should never be afraid to touch or hold the baby but exercising caution is paramount. To lift the baby, the fingers need to be spread apart with one hand under the buttocks and the other hand behind the shoulders and neck.
• One should never lift the baby under the armpits
• One should make sure that the extremities are not pulled in any way as it may break the fragile bones.
• While placing the baby in the car, a special car seat with a recliner needs to be used.
• While using a stroller, it should be large enough so that the baby with the cast can fit in.
• The child needs to be exercised appropriately under the supervision of the therapist.

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