How do I know if my baby has osteogenesis imperfecta?
Symptoms of OI include: Easily broken bones. Bone deformities, such as bowing of the legs. Discoloration of the white of the eye (sclera), may be blue, purple, or gray in color.
How do you test for brittle bone disease?
Your doctor can diagnose brittle bone disease by taking X-rays. X-rays allow your doctor to see current and past broken bones. They also make it easier to view defects in the bones. Lab tests may be used to analyze the structure of your child’s collagen.
How long do babies with osteogenesis imperfecta live?
Life expectancy varies greatly depending on OI type. Babies with Type II often die soon after birth. Children with Type III may live longer, but often only until around age 10. They may also have severe physical deformities.
Can ultrasound detect brittle bone disease?
A reliable diagnosis of the lethal perinatal type of osteogenesis imperfecta can be made by ultrasound examination during the second trimester, by identification of fractures of the long bones.
What can cause fractures in infants?
There are several rare bone diseases that can cause fractures in infancy. These include panostotic fibrous dysplasia/McCune–Albright syndrome, osteopetrosis, infantile severe hypophosphatasia, congenital insensitivity to pain with anhidrosis, congenital rickets, and congenital cytomegalovirus infection.
Do babies break bones easily?
Babies’ bones are so pliable they rarely break. If your baby’s injury only swells a little bit and he doesn’t seem to be in much pain, it’s all right to treat the injury with ice (see below) and wait a day or two before calling the doctor.
Can brittle bone disease be detected prenatally?
If OI is moderate or severe, healthcare providers usually diagnose it during prenatal ultrasound at 18 to 24 weeks of pregnancy.
How do I know if my baby has a fracture?
Baby or toddler fracture symptoms may include:
- A snap or grinding noise when the injury occurred.
- Swelling and bruising.
- Severe pain, particularly in one spot.
- Tenderness to the touch.
- Bent or deformed appearance of the limb.
- Numbness.
Is there a test for osteogenesis imperfecta?
There is no specific test for OI. Your doctor uses your medical and family history, physical exam, and imaging and lab tests to diagnose it. Your doctor may also test your collagen (from skin) or genes (from blood). There is no cure, but you can manage symptoms.
How do you know if a baby has a fracture?
If you think your child has a fracture, they may have the following symptoms: pain or tenderness at the injury site. swelling or redness around the injury. deformity (unusual shape) of the injured area.
Do infants bones crack?
It’s very common for a baby or toddler to make clicking and popping noises—similar to the sound of cracking one’s knuckles—in the spine and around the shoulders, knees and ankles. These are normal.
What causes brittle bone disease in babies?
Causes. Brittle bone disease is passed down through families, or inherited. It’s caused by a defect in a gene that is supposed to make a substance called collagen. Collagen is a protein in your body that forms and strengthens bones.
How is brittle bone disease diagnosed?
The severity of fragility is what varies for each person. X-rays will be done to confirm a diagnosis of brittle bone disease. Your doctor can see both current and past broken bones and detect defects within bones. Additional lab tests may be done to check the collagen levels and structure, and in some cases, a biopsy can be done.
How do I know if my child has brittle bones?
Your doctor will examine your child and ask questions about your family and medical history. Blood and urine tests will rule out other health conditions that can cause weak bones, such as rickets. Genetic testing can confirm brittle bone disease. Genetic tests can also tell if you or your family members carry the gene.
Can a child develop brittle bone disease on its own?
Sometimes a child doesn’t inherit the gene from either parent, but the gene mutation develops on its own. The main symptom of brittle bone disease is broken bones. They break very easily. Your child may have a bone break during a diaper change, or even when being burped.
How do doctors diagnose broken bones in babies?
If your baby is born with broken bones, the doctor can diagnose the condition with a physical exam. Your doctor will examine your child and ask questions about your family and medical history. Blood and urine tests will rule out other health conditions that can cause weak bones, such as rickets.