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osteogenesis imperfect

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Osteogenesis imperfecta (OI) is a rare bone-affecting genetic disorder characterized by very weak bones that are prone to fractures and deformities. Its severity ranges on a very smooth continuum from very mild to severe. Severe cases are those that wouldn’t survive through pregnancy or if they do, they would have multiple fractures and serious complications of the lungs and brain, whilst on the other end of the spectrum, some affected individuals can live a fairly normal life until adulthood with as little as only a single fracture in their lifetime. Interestingly, OI is a disease that has been present over a really long time. The earliest known case of OI is documented from that of a mummified infant’s skeleton from ancient Egypt. To clear the confusion, OI has multiple different names; Lobstein disease, brittle bone disease, fragile-bone disease, and blue-sclera syndrome.

There are 8 types of OI and each their own characteristic signs and symptoms. Generalizing the disease, we can outline the symptoms of OI as per follows:

Blue sclerae (the white part of the eye)

Triangular facial structure

Head which is bigger in proportion with the body

Early deafness

Wide-spaced teeth

Protruding chest

Scoliosis or excessive curving of the spine

Bowing of the hands and legs

Fractures from an otherwise low-impact hit

Growth retardation

Other symptoms may include constipation, frequent sweating and hernia.

Patients with OI may have a combination of these symptoms depending on the type they inherit.

Osteogenesis imperfecta prognosis or outlook is as variable as the disease severity. We shall look into the matter in a more detailed perspective.

Early stillbirths

Stillbirths may happen in very severe forms of OI and virtually every bone in the body has sustained multiple fractures.

Severe perinatal type

This is a feature of type II OI and it is usually fatal within hours after birth, though some babies may live up to several months.

Non-lethal type

Non-lethal OI patients have a life expectancy similar to the healthy population. Unless they are complicated with serious complications.


Despite their physical limitations, it is found that patients with OI on a general level, are well motivated and determined to achieve as much as possible. Hence it must be pointed out that patient education is of utmost importance to avoid these patients from having low self-esteem and depression.

Repeated respiratory infections

A complication of severe OI. If this condition is not managed properly, it may lead to increased morbidity and mortality of the patient.

Neurologic complication

An OI patient, particularly the younger ones with a large head may cause certain parts of the brain, or the brainstem, to be compressed and this can lead to cessation of vital activities such as breathing and heartbeat.


Women with OI who got pregnant, carry with them increased risk of complications. They are more prone to develop excessive bleeding before and after delivery, placental detachment from the uterus, growth retardation of the growing fetus, delivering babies with malformations and delivering preterm babies.

The Osteogenesis Imperfecta Foundation has outlined the following tips to educate the parents and society on proper care of their children with OI. The rule is to not be afraid of holding the child, but always be careful

  • Lift the infant with the hands supporting the shoulder, head and neck, and the other supporting the buttocks and legs
  • Never lift them by holding under their armpits
  • Do not pull their arms or legs when changing their diapers, always lift their legs by the ankles
  • Choose a child car seat that can recline, spacious, and pad the areas under the harness
  • Adhere to your doctor’s advice regarding their diet and exercise regime. Swimming and walking are generally safe for them.
  • Avoid drinking, smoking and taking steroids, all of which can reduce bone density and further weaken their already brittle bones.

Parents should be highly motivated and shouldn’t feel guilty over an unintentional fracture. A child has to grow and a fracture may happen despite all the care.