guidebook. - Fanconi Anemia Research Fund

338
Fanconi Anemia: Guidelines for Diagnosis and Management
Bullae: Bullae are blisters wider than 1 centimeter.
Bullae that are filled with clear fluid may occur on the
skin. 5
Café au lait spot: A birthmark that is light tan, the color
of coffee with milk. 5
Cardiomyopathy: A weakening of the heart muscle
or a change in heart muscle structure, often associated
with inadequate heart pumping or other heart function
problems. 5
Carpectomy: Removal of a carpal bone(s).
Carpus: The group of bones supporting the wrist. 1
Central line: See Hyperalimentation.
Chelation: The use of a chelator (an organic chemical
that bonds with and removes free metal ions) to bind
with a metal (such as iron) in the body. Chelation may
inactivate and/or facilitate excretion of a toxic metal. In
FA patients, most often refers to a method for getting
rid of excess iron.
Cholestasis: Any condition in which the flow of bile
from the liver is blocked. Blood tests may show higher
than normal levels of bilirubin and alkaline phosphatase.
Imaging tests are used to diagnose this condition. 5
Chorionic villus sampling (CVS): An early prenatal
diagnostic test. In the first trimester of pregnancy, an
instrument is inserted vaginally or through the abdomen
into the uterus under ultrasound guidance to identify
the placenta and the fetus. Villus cells, which later
form part of the placenta, are removed. These cells
are then studied for chromosome abnormalities, either
for abnormal numbers of chromosomes (as in Down
syndrome, where there are three chromosome 21s) or