medical tests are used to diagnose dwarfism during pregnancy and the
first years of childhood or to monitor physical development of children
with dwarfism. While these tests detect and observe specific signs of
dwarfism, many of the following tests are commonly used to detect other
conditions or health problems.
Fetal Morphology and Nuchal Fold
first trimester, an ultrasound measures the nuchal fold, the thickness
of the space behind the nape of the neck between the skin and the
cervical backbone of the fetus. If this space is greater than the
average 2 to 4 mm, it may indicate the presence of Down Syndrome or
another genetic abnormality. This test is used more and more to assess
the risk of dwarfism in the fetus. Performed at the end of the second
trimester, the ultrasound examines the morphology of the fetus and
evaluates the size of the different body parts to check for dwarfism.
professional regularly measures the child’s height and compares the
results with growth charts, which have been made for the general
population. By doing so, the professional is able to detect possible
growth retardation or monitor the development of a child who has
already been diagnosed with dwarfism.
to Determine Bone Age
professional takes x-rays of the child’s non-dominant hand and
identifies the ossification points. By comparing these x-rays with
standard ones corresponding to the child’s age, the specialist can
determine whether or not the hand will continue to grow.
Resonance Imaging – MRI
provides images of soft tissues: bone marrow, spinal cord and brain.
Specialists can detect possible spinal cord compression and determine
whether or not both types of bone marrow, red and yellow, are in
correct proportion to one another. MRIs can also detect bone diseases
or anomalies in bone growth and ossification.
Axial Tomography (CAT-Scan)
show internal organs, the brain, spinal cord and bone marrow as if they
were cut in thin consecutive slices. It also allows us to see swollen
ventricles in the case of hydrocephalus and spinal stenosis
(compression of the spinal cord).
Consulting and Testing
testing examines a person’s genes to see if that person carries the
gene mutation responsible for dwarfism. These tests can diagnose
dwarfism or evaluate the risks of little people who are parents (or of
healthy parents who already have one child or several children with
dwarfism) of having a child with dwarfism. However, although a few
types of skeletal dysplasia are well known and thus easy to diagnose,
other extremely rare forms of dwarfism are not as well understood by
the scientific community. Therefore, in spite of a very thorough
examination, using genetic testing to find an accurate answer is not