Brittle Bone Disease (Osteogenesis Imperfecta) in Babies

Brittle Bone Disease (Osteogenesis Imperfecta) in Babies

Osteogenesis Imperfecta means “Imperfect Bone Formation”. It is a condition in which bones break easily due to some mild trauma and at times even without any apparent cause. In some severe cases, the baby may suffer fractures while he is in his mother’s womb whereas in milder forms the patient may experience multiple fractures over his entire lifetime. A person suffers from it when collagen (a protein in our body which makes our bones strong) production is less. It occurs due to defective genes passed on from the parent.


What Is Brittle Bone Disease?

Brittle Bone Disease also known as Osteogenesis Imperfecta is a condition in which the bones are weak as a result of which the bones become brittle and are prone to breaking easily. Along with bones, the disease weakens the muscles, makes the teeth brittle and may also cause loss of hearing in people.


Types of Brittle Bone Disease

This disorder is characterised by a fragile skeleton. There are four types of genes responsible for collagen production. A combination of any of these genes or combination of all four together can be affected.

Types of brittle bone disease

  1. Type 1 OI

This is the mildest and the most common form of the disease that a baby can have. In this type, the body produces normal quality collagen, but it is not sufficient enough for the body’s needs. It can cause bone fractures due to mild trauma and may also affect teeth causing dental cracks and cavities.

  1. Type 2 OI

This is the most severe form of OI and is fatal. The Collagen production in this type of the disease is either insufficient or of poor quality. People suffering from this type of the disease have bone deformities like narrow chest, broken or malformed ribs and underdeveloped lungs. The pregnant woman can bear a miscarriage, or the baby can be stillborn

  1. Type 3 OI

This is another severe form of the disease. In this, the body produces enough collagen, but it is not of the desired quality. As a result, the affected baby’s bones start breaking in their mother’s womb itself. Bone deformities can be seen too, and they get worse as the child grows older.

  1. Type 4 OI

The symptoms of this type may range from mild to severe. Like Type 3 OI, the collagen production is enough but of is of poor quality. As a result, children born with this type have bowed legs. The good news is that the bowing tends to lessen with age.

Osteogenesis Imperfecta Causes

  • Direct Genetic Inheritance From A Parent

When a parent who suffers from OI passes on the faulty gene to the child, he is also born with the same OI as the parent.

  • Dominant Genetic Mutation

About one – fourth cases of OI are born into a family that has no history of the disease and are not a result of inheritance from the parents. Rather it occurs due to a new or spontaneous genetic mutation.

Osteogenesis Imperfecta Symptoms

The symptoms of Osteogenesis Imperfecta or Brittle Bone Disease vary from type to type in their degree of Bone fragility and fractures and in some cases bone deformity.

  1. Type 1 OI
  • Bone fractures happen mostly in the early years of a child and decrease in frequency after attaining puberty
  • The person may be a few inches shorter than the same gender relatives
  • Little or no bone deformity
  • In some rare cases, the person may suffer from brittle teeth
  • Some people may also suffer from loss of hearing
  • Blue sclera (bluish colour in the white portion of the eye)
  • Gets easily bruised
  • There may be mild delay in motor

Symptoms of Osteogenesis Imperfecta

  1. Type 2 OI
  • Severe body deformation like undersized chest and under-developed lungs
  • Usually stillborn or the baby may die in the first months of life
  • Some who live to be adults suffer several fractures
  • Extremely short stature with a tiny chest and as a result, underdeveloped lungs
  1. Type 3 OI
  • Fractures at birth
  • Severe early hearing loss
  • Loose joints and poor muscle development in arms and legs
  • The rib cage is barrel-shaped
  • The individual has triangular shaped face
  • May suffer from respiratory problems
  1. Type 4 OI
  • Fractures common mostly before puberty
  • Curved spine
  • Loose joints
  • Teeth may be affected
  • The bone structure may get enlarged in places where fractures have occurred or even without any occurrence of fractures

Diagnosing Osteogenesis Imperfecta

The first step towards diagnosing OI is going through family history. Once that is done, the doctor will examine the medical history of the person. The doctor will then ask for –

  • X-ray test to evaluate the bone structure, internal tissues and internal organs.
  • Biopsy of the skin to examine the collagen.
  • Audiometry test to detect hearing test.
  • In a case where the pregnant woman has OI, a procedure called Chorionic Villus sampling is done in which cells from the Placenta are taken for testing. This tells if there is any collagen defect in the foetus which could lead to OI in the baby.
  • Another procedure called Amniocentesis is done by inserting a thin needle into the amniotic sac to draw out the amniotic fluid.

Treatment For Osteogenesis Imperfecta

There is no treatment for completely eliminating OI. However, treatments can be given to prevent or control symptoms, and it can vary from one individual to another.

  • Fracture Care

Care should be taken to heal the fractures and to minimise them by being careful not to cause even the slightest of trauma.

Child with a fractured limb

  • Physical Therapy

It is usually a combination of muscle strengthening and aerobics. Children would be given exercises by physiotherapists to strengthen muscles and aid in improving motor skills which are usually delayed due to OI.

  • Medication

Medicines can be prescribed to ease the pain. Vitamin D and Calcium should be taken to improve bone health.

  • Surgery

In some cases, surgeries can be carried out to amend deformities.

  • Bracing

People affected by OI can wear support braces in the legs to provide support for weak muscles, decrease pain and keep the joints properly aligned.

  • Counselling

People suffering from OI may suffer from low self-esteem or personality disorders. Therefore Psychiatric counselling is an essential part of the rehabilitation program.

Related problems due to OI like loss of hearing may require these patients to wear hearing aids and crown/braces in case of dental deformities. Some people with underdeveloped lungs could also require oxygen administered from external sources.

Taking Care of Your Infant

Infants are fragile and vulnerable. And infants with OI are even more so. Therefore infants with OI should be carefully handled since they are more prone to fractures and may have several bone deformities. Here is a list of things parents should do while handling OI infants.

  • While carrying the infant or moving him, the parent/caregiver should be slow and gentle. Any hastiness, pushing, pulling or bending the infant could result in fractures. While picking up the infant, care should be taken not to hold him around the rib cage. This could fracture the rib cage.
  • The head and trunk should be supported with one hand, and another hand should be under the baby’s buttocks. Utmost care should be taken while handling the infant during his dress/diaper change or while feeding.
  • Placing OI affected infants on their stomachs could suffocate them.
  • Infants with OI cannot feed well. Therefore they should be breastfed more often than others. Severe OI in infants may cause breathing difficulties. In such a case, the mother can pump her breastmilk and feed her baby from a bottle.
  • The infant should be re-positioned time to time while in his bed so that the soft skull does not turn flat on one side.
  • Lastly, infants with OI should be given the same amount of love as you would give to your other child without OI. This being a lifelong disorder, parents have to be mentally prepared to overcome the hurdles associated with this disorder and bring up their baby in the best way possible.

Locating the Fracture in Your Infant and Ways to Deal With It

Sudden crying could be a sign of pain caused by a fracture in an OI affected baby. Firstly try and calm him down and once he calms down a bit, try and touch his body parts gently. If he starts crying on touching a certain part of his body, it may be fractured. Pick him up gently and place him in the car seat carefully with adequate padding. Be sure to drive slowly so that there is no jerking. At the hospital do not allow anyone other else than the doctor or the nurse to handle the child.

Baby Crying

What Is the Long-Term Outlook?

The Long Time Outlook differs from type to type.

  1. Type 1 OI

People affected by this type can lead normal lives in comparison to some of the severe types.

  1. Type 2 OI

It is a severe form of the disease and usually fatal. The baby may be stillborn or may die in few months. While some suffering children from this type of OI may live to adulthood, they may suffer several bone deformities.

  1. Type 3 OI

Children with this type may suffer severe Bone deformities and may have to take the help of wheelchairs to move around. Their lifespan is also shorter than the milder types of Type 1 or Type 4.

  1. Type 4 OI

People with this form of the disease may have to take the help of crutches or wheelchairs to walk around, but their lifespan is normal.

Precautions to Take

The Brittle Bone Disease in babies can cause a lot of worries for the parents. A lot of care and precaution should be taken while handling such infants. Here is a list of things to be kept in mind –

  1. Osteogenesis Imperfecta in Infants causes Fractures by a simple push or a pull. Therefore care should be taken to avoid it.
  2. Caution should be taken while inserting IVs, taking blood pressure or taking an X-Ray.
  3. The dosage of medicines should be according to the size and not the age in OI affected infants.
  4. In case you feel that your baby has had a fracture, refrain from moving that particular part of his body.
  5. Do not keep an infant’s head positioned only on one side. His head position should be carefully changed now and then so that his soft skull may not flatten only on one side.
  6. Never place your hand under the rib cage while lifting a baby with OI. It may cause a fracture in the rib cage.

The thought of bringing up a child having a disability due to Osteogenesis Imperfecta may seem like a Herculean task, but with time you will come to terms with it. Along with patience and lots of care, parents of children affected by the disease should not shy away from filling their lives with love and affection.