title: Reconstruction of limb deformities in patients with thrombocytopenia-absent radius syndrome.
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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, Vienna, Austria; First Medical Department, Hanusch Hospital, Vienna, Austria; Paediatric Department, Orthopaedic Hospital of Speising, Vienna, Austria.
authors.forename: Ali
authors.initials: A
authors.lastname: Al Kaissi
authors.forename: Werner
authors.initials: W
authors.lastname: Girsch
authors.forename: Vladimir
authors.initials: V
authors.lastname: Kenis
authors.forename: Eugeniy
authors.initials: E
authors.lastname: Melchenko
authors.forename: Maher
authors.initials: M
authors.lastname: Ben Ghachem
authors.forename: Renata
authors.initials: R
authors.lastname: Pospischill
authors.forename: Klaus
authors.initials: K
authors.lastname: Klaushofer
authors.forename: Franz
authors.initials: F
authors.lastname: Grill
authors.forename: Rudolf
authors.initials: R
authors.lastname: Ganger
mesh_terms: D002675:Child, Preschool; D000080984:Congenital Bone Marrow Failure Syndromes; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D019637:Orthopedic Procedures / Q000379:methods*; D011183:Postoperative Complications; D011859:Radiography; D011884:Radius / Q000000981:diagnostic imaging / Q000601:surgery; D012189:Retrospective Studies; D013921:Thrombocytopenia / Q000000981:diagnostic imaging / Q000601:surgery*; D016896:Treatment Outcome; D038062:Upper Extremity Deformities, Congenital / Q000000981:diagnostic imaging / Q000601:surgery*
keywords: Longitudinal radial deficiencies; Reconstruction; Thrombocytopenia-absent radius syndrome