[Thrombocytopenia with bilateral absence of the radius (TAR syndrome). Reports of 2 clinical cases].
Thrombocytopenia with bilateral absent radii (TAR syndrome) is a hereditary condition with a recessive autosomic character. It is characterised by a series of hematological, skeletal and cardiac alterations, and also by various clinical manifestations. The frequency of this syndrome is very low. During the first months of life, prognosis is related to the severity of hemorrhage, but it improves after two years. Diagnosis is at times complex owing to the similarity between this and other syndromes. Therapy, especially during the first year of life, is based on blood transfusion. The paper describes clinical findings in two subjects admitted to the Istituto di Clinica Pediatrica. The two cases presented diverse degrees of hematological and skeletal involvement and followed different clinical evolutions.
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Dipartimento di Pediatria, Università degli Studi di Napoli.
Vetrano
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Caianiello
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Critelli
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Esposito
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Parrella
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Pizza
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LC
D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome; D013921:Thrombocytopenia / Q000150:complications*
Trombocitopenia con assenza bilaterale del radio (sindrome TAR). Osservazione di due casi clinici.