Reconstruction of limb deformities in patients with thrombocytopenia-absent radius syndrome.

Objective: Developmental abnormalities of the appendicular skeleton are among the most common and easily identified birth defects. The aim of this report was to describe the phenotypic characterization of several patients with thrombocytopenia-absent radius (TAR) syndrome and the orthopaedic interventions performed on them. TAR syndrome is inherited in an autosomal recessive manner and results from compound heterozygosity of RBM8A mutations.

Methods: Reconstructions were designed and performed in five patients with TAR syndrome, mainly comprising orthopaedic interventions to correct their upper limb defects. Additional lower limb deformities (severe internal rotation of the tibiae) was been encountered in one patient.

Results: The affected patients' wrists were re-aligned and stabilized and the musculotendinous forces around the wrist rebalanced to reverse the ulnar forearm bow.

Conclusion: Patients with TAR syndrome who receive optimal treatment can expect to return to most activities of daily living with some limitation of wrist extension and ulnar deviation and, of course, with a reduced total active range of digital motion.