How is the skeletal system affected by Marfan syndrome?
Differences in the bones and joints are some of the more obvious signs of Marfan syndrome. Weakened connective tissue can cause bones to grow longer than normal. It also affects ligament tissue, making it loose and more flexible. Ligaments act like strong ropes to hold your bones together and keep your joints stable.
How early can skeletal dysplasia be detected?
How is skeletal dysplasia diagnosed? The first indication that a baby has a skeletal dysplasia condition may arise during a routine prenatal ultrasound examination, usually one conducted in the second trimester of pregnancy. The image may show arms and legs shorter than average and a head larger than average.
What causes skeletal dysplasia in pregnancy?
Some skeletal dysplasias are commonly caused by a new mutation, not present in the parents, which occurred in the fetus in early pregnancy, while others are caused by the baby inheriting two copies of the same defective gene, one from each parent.
Can you tell if a baby has Marfan syndrome?
To be diagnosed with Marfan syndrome, your child must have some specific health problems affecting the heart, blood vessels, bones, and eyes. Your child may also have tests, such as: Electrocardiography (ECG). A test that records the electrical activity of the heart.
How long do babies with skeletal dysplasia live?
About half of fetuses with skeletal dysplasia are stillborn or die within the first six weeks of life. But not all children with dysplasias have severe medical problems. Many of these children can live relatively normal lives.
Can amniocentesis detect skeletal dysplasia?
When skeletal dysplasia is suspected and the type of dysplasia is not clear from the ultrasound, one step in the management is genetic testing (usually by amniocentesis). A combination of several genetic tests, called a skeletal dysplasia panel, can help determine which type of skeletal dysplasia is present.
Why does skeletal dysplasia happen?