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Diagnosis Mistakes » Untreated patients of Marfan's die at age 30
 

Untreated patients of Marfan's die at age 30

Marfan's syndrome is an autosomal disorder of the connective tissues. It affects the connective tissue of the skeletal, ocular and cardiovascular system. The patient is usually tall and thin with long digits, high arched palate and loose joints. He may also present with ocular and cardiac deformities. The diagnosis is based on the family history and co-relating all the findings. Of concern is aortic root dilatation which occurs in these patients and hence an annual echocardiogram is required. It must be discriminated from acromegaly, gigantism, fragile X syndrome and thyrotoxicosis by means of blood investigations. If untreated the patient dies at the age of 30 or 40 years. Genetic counselling for the family is needed.

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