COMMON ATRIUM ASSOCIATED WITH POLYDACTYLY AND SHORT STATURE IN A MIDDLE AGE MALE PATIENT - A CASE REPORT
Abstract
Polydactyly associated with short stature
may serve as a hint for the presence of
additional cardiac abnormalities, thus
rousing the demand for a detailed cardiac
and genetic investigation. In our
case diagnosis of most likely Ellis-van
Creveld syndrome. We may conclude
that prenatal diagnosis of the syndrome
can be readily achieved by fetoscopy,
fetal echocardiography, and molecular
genetic testing by amniocentesis or DNA
extracted from chorionic villus samples.
Prenatal diagnosis can also be established
using mutation analysis of EVC
gene from fetal DNA. These cases emphasis
the importance of fetal examination
for accurate diagnosis of rare syndromes.
Education of the general public,
especially parents, on congenital anomalies
as well as improvement of medical
and diagnostic facilities is therefore suggested
even if not demanded.
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