Definition:
It is a disorder distinguished by the non-appearance of the radius bone in the forearm and severely decreased platelet count that leads to marking and potentially life-threatening haemorrhage.
Diagnosis:
Diagnosis is commonly suspected at birth due to the fact that the appearance of the forearms is evident. To confirm the diagnosis skeletal x-ray and blood and bone marrow examination is done. Ultrasonography is done for prenatal diagnosis.
Treatment:
Usually treatments start from transfusion of platelets to surgery. Proper care for the baby should also be observed and it is recommended that they should be checked for heart abnormalities. Regular visit to a paediatric orthopaedist should be established to improve the level of functionality of the hands of the child as much as possible.
Symptoms and Signs:
Symptoms are evident at birth, infant has arms that are very short and wrists may be angled upwards and outwards. Other muscles or skeletal parts of the body maybe affected like the ulna where in it is often abnormal or short. Knees may also out of place, kneecaps and knee joints are not stable. Most patients with TAR syndrome have low blood platelet count. Other symptoms may include gastrointestinal tract bleeding, bruising, or blood in the vomit. Some patients have too many white blood cells, low red blood cell count and about 30% of the patients have congenital heart defect and 20% have abnormalities in the urinary tract.
:
thrombocytopeniaabsentradiustarsyndrome
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