Diagnosis

Because of the individual variability of O.I. it is impossible to make general statements about the prospects of an affected person. It is recommended to seek personal advice. In many cases fragility diminishes after puberty for reasons still unknown. O.I. can be quite difficult to diagnose. Many doctors are not familiar with it, and many cases go undetected. It is a myth that all people with O.I. have blue sclerae. Only a certain percentage of people with O.I. have blue sclerae. Occasionally child abuse is suspected when the child in fact has O.I., this is a particularly frustrating experience for the family involved. If you think that you or your child may have O.I. ask your national O.I. society to direct you to a specialist who is familiar with O.I.

Prenatal Diagnosis

A prenatal diagnosis is recommended to women with O.I. who become pregnant, or to women who conceive a child with a man who has O.I.

Ultrasound is the least invasive procedure for prenatal diagnosis and carries the least risk. Using ultrasound, a doctor can examine the fetus’s skeleton, the arm and leg bone, or other abnormalities that may indicate O.I. Of course very often the fractures that a baby can have inside the womb and which are clear in an ultrasound are not a diagnostic clue for O.I., because these fractures may result from other genetic disorders. Different types of the disease can be detected by ultrasound in the second trimester of the pregnancy. When there is a previous pregnancy involving a baby with O.I., a collagen test of the fetus is suggested, where someone can be informed about the quantitative or qualitative collagen defects that leads to O.I. Amniocentesis is a procedure in which we can examine fetus’s DNA and that can be performed at 16 – 18 weeks of pregnancy. A thin needle is inserted into the uterus, into the amniotic sac and a small amount of amniotic fluid is withdrawn. This fluid contains fetal cells and will be tested for the specific mutation known to cause O.I. (The above tests are scheduled with specialists, who will inform properly the family about the details of the medical procedures they must follow).

(The above tests are scheduled with specialists, who will inform properly the family about the details of the medical procedures they must follow).

Different names for Osteogenesis Imperfecta

• Brittle Bone Disease

• Ekman-Lobstein Disease

• Lobstein Disease (Type I)

• Vrolik Disease (Type II)

• Fragilitas ossium

• Osteopsathyrosis