title: Reconstruction of bilateral tibial aplasia and split hand-foot syndrome in a father and daughter.
abstract: BACKGROUND
  Tibial aplasia is of heterogeneous aetiology, the majority of reports are sporadic. We describe the reconstruction procedures in two subjects - a daughter and father manifested autosomal dominant (AD) inheritance of the bilateral tibial aplasia and split hand-foot syndrome.
  
  
  METHODS
  Reconstruction of these patients required multiple surgical procedures and orthoprosthesis was mandatory. The main goal of treatment was to achieve walking. Stabilization of the ankle joint by fibular-talar-chondrodesis on both sides, followed by bilateral Brown-procedure at the knee joint level has been applied accordingly.
  
  
  RESULTS
  The outcome was with improved function of the deformed limbs and walking was achieved with simultaneous designation of orthotic fitting.
  
  
  CONCLUSIONS
  This is the first study encompassing the diagnosis and management of a father and daughter with bilateral tibial aplasia associated with variable split hand/foot deformity without foot ablation. Our patients showed the typical AD pattern of inheritance of split-hand/foot and tibial aplasia.
authors.affiliation: Department of First Medical, Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, Hanusch Hospital; Department of Paediatric, Orthopaedic Hospital of Speising, Vienna, Austria.
authors.forename: Ali
authors.initials: A
authors.lastname: Al Kaissi
authors.forename: Rudolf
authors.initials: R
authors.lastname: Ganger
authors.forename: Klaus
authors.initials: K
authors.lastname: Klaushofer
authors.forename: Franz
authors.initials: F
authors.lastname: Grill
mesh_terms: D000328:Adult; D005220:Fathers; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000235:genetics / Q000503:physiopathology / Q000601:surgery*; D008297:Male; D009679:Nuclear Family; D019637:Orthopedic Procedures / Q000379:methods*; D011859:Radiography; D019651:Plastic Surgery Procedures / Q000379:methods*; D013977:Tibia / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000503:physiopathology / Q000601:surgery; D016138:Walking