Marfan Syndrome
It is a heritable genetic defect of the
connective tissue that has an autosomal dominant mode of transmission.
SYMPTOMS:
Still
birth occurs. Skeletal deformities include arachnodactyly, thoracolumbar
scoliosis and dolichostenomelia.
The shape of the skull and face is
characteristically long and narrow. Myopia, aortic dilation, kyphosis, flat
feet are other symptoms of the disease.
DIAGNOSIS:
Diagnosis
is based on clinical features. Radiographs also help in the diagnosis.
TREATMENT:
There
are no specific treatments. Cardiac problems can be fatal. Patients have a less
life span.
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