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Editor—The syndrome of thrombocytopenia and absent radius (TAR syndrome) is an autosomal recessive condition characterised by congenital hypomegakaryocytic thrombocytopenia and bilateral radial aplasia with the presence of thumbs.1 2Associated abnormalities include other skeletal defects, cardiac malformations, and gastrointestinal disorders.1-4 Lower limb abnormalities, such as coxa valga, ankylosis of the knee, tibial torsion, and hip dislocation have been reported,2 4 5but severe knee dysplasia has rarely been described. We report a case of TAR syndrome presenting with phocomelia of the upper limbs and marked knee dysplasia owing to complete agenesis of the cruciate ligaments and severe hypoplasia of the menisci.
Case report
The male proband, the first child of young, healthy, unrelated parents, was born at term by caesarian section after a normal pregnancy. Birth weight was 2760 g (3rd-10th centile) and head circumference was 34 cm. Birth length was only 45 cm (below the 3rd centile) because of irreducible flexion of the knees. Severe phocomelia of the upper limbs and a petechial rash on the trunk were noted at birth. The white blood cell count was 35 400/mm3, haemoglobin 18.8 g/dl, and platelet count 32 000/mm3. Anaemia (7.1 g/dl) with erythroblastopenia developed from the end of the first month, requiring four blood transfusions. Bone marrow aspirations during the first months showed severely reduced megakaryocytes. His platelet count ranged from 3000 to 60 000/mm3 …