[Thrombocytopenia and absent radii syndrome (TAR). Case report and literature discussion].
A girl is described with the thrombocytopenia and absent radii (TAR) syndrome. The literature concerning this rare, autosomal recessive inherited syndrome is discussed. The main characteristics are bilateral radius aplasia in which the thumbs are present in combination with a a- or hypomegakaryocytic thrombocytopenia. Many other anomalies and associated disorders are described in the literature, especially in the haematological, skeletal, cardiac and intestinal fields. The treatment is mainly directed to the haemorrhagic diathesis and the orthopaedic problems. It is suggested that the mortality-rate--mainly a consequence of haemorrhage--which used to be 30-40%, has diminished thanks to the evolution of platelet transfusion therapy.
Kaspers
G J
GJ
Ziekenhuis St. Joannes de Deo, Haarlem.
Schreuder
C H
CH
Veerman
A J
AJ
D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000150:complications; D006801:Humans; D007231:Infant, Newborn; D008533:Megakaryocytes; D011884:Radius / Q000002:abnormalities*; D013577:Syndrome; D013921:Thrombocytopenia / Q000150:complications*
Het trombocytopenie en afwezige radii (TAR) syndroom. Een casus en bespreking van de literatuur.