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. 2015 Feb;7(1):50-6.
doi: 10.1111/os.12157.

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

Ali Al Kaissi  1 , Werner Girsch, Vladimir Kenis, Eugeniy Melchenko, Maher Ben Ghachem, Renata Pospischill, Klaus Klaushofer, Franz Grill, Rudolf Ganger
Affiliations

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

Ali Al Kaissi et al. Orthop Surg. 2015 Feb.

Abstract

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.

Keywords: Longitudinal radial deficiencies; Reconstruction; Thrombocytopenia-absent radius syndrome.

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Figures

Figure 1
Figure 1
Clinical phenotypes of three children aged (A) 8 months, (B) 2 years and (C) 5 years. See text for details.
Figure 2
Figure 2
Congenital absence of the radius in in two different patients with preservation of hypoplastic thumbs, complete absence of the radius (Type IV). Please see text for details.
Figure 3
Figure 3
The first step of fitting an Ilizarov frame on the left forearm with inclusion of the hand has been performed, together with an osteotomy of the ulna was performed with the goal to lengthen the left forearm. Lengthening began on the second post‐operative day at 4 × 0.25 mm a day.
Figure 4
Figure 4
Results of multistage corrections (after the second lengthening with an Ilizarov frame of the ulnae).
Figure 5
Figure 5
Radiographs showing the final correction in both forearms.
Figure 6
Figure 6
Due to severe internal rotation of the right tibiae in one patient, a derotational tibial osteotomy was performed together with acute external rotation. Fixation was achieved with a locking plate without postoperative casting.
See this image and copyright information in PMC

References

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