Marfan syndrome
How is it diagnosed?
Marfan syndrome is diagnosed when classical signs of weakness in at least two systems (heart, eyes, skeleton) are found. Diagnosis is made on the basis of family history, physical examination including slit lamp examination for possible dislocated lens, and echocardiogram. Linkage to the gene on chromosome 15 may be studied if affected family members in two generations are available.
What are the causes?
| Inheritance patterns and prenatal diagnosis ![]()