Loeys-Dietz Syndrome
It is an autosomal dominant
genetic disorder. It has
many similarities with another genetic disorder named as Marfan’s syndrome.
SYMPTOMS:
The
clinical features are orbital hypertelorism, bifid uvula, cleft palate, cork
screw shape of the arteries, scoliosis, defective chest wall and fingers, hypnosis,
club foot, early fusions of the skull bones, congenital cardiac problems, joint
hyper mobility and abnormal scar or bruising.
DIAGNOSIS:
It’s
symptomatic. Genetic studies can be done.
TREATMENT:
No
effective treatment is there till date. Some defects can be corrected by
vascular surgeries. Losartan is under research for the treatment of the
disease.
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