Thrombocytopenia-Absent Radius Syndrome Questions & Answers

Updated: Mar 07, 2019
  • Author: John K Wu, MBBS, MSc, FRCPC; Chief Editor: Hassan M Yaish, MD  more...
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Questions & Answers

Overview

What is thrombocytopenia-absent radius (TAR) syndrome?

What is the pathophysiology of thrombocytopenia-absent radius (TAR) syndrome?

What is the prevalence of thrombocytopenia-absent radius (TAR) syndrome in the US?

What is the global prevalence of thrombocytopenia-absent radius (TAR) syndrome?

What is the mortality and morbidity associated with thrombocytopenia-absent radius (TAR) syndrome?

What are the racial predilections of thrombocytopenia-absent radius (TAR) syndrome?

What are the sexual predilections of thrombocytopenia-absent radius (TAR) syndrome?

At what age is thrombocytopenia-absent radius (TAR) syndrome typically diagnosed?

What is the prognosis of thrombocytopenia-absent radius (TAR) syndrome?

Presentation

Which clinical history findings are characteristic of thrombocytopenia-absent radius (TAR) syndrome?

Which upper-extremity findings are characteristic of thrombocytopenia-absent radius (TAR) syndrome?

How is the severity of thrombocytopenia-absent radius (TAR) syndrome categorized?

Which lower-extremity findings are characteristic of thrombocytopenia-absent radius (TAR) syndrome?

Which cardiac findings are characteristic of thrombocytopenia-absent radius (TAR) syndrome?

Which facial anomalies are characteristic of thrombocytopenia-absent radius (TAR) syndrome?

Which physical findings are characteristic of thrombocytopenia-absent radius (TAR) syndrome?

How is thrombocytopenia-absent radius (TAR) syndrome differentiated from other skeletal conditions of the upper extremities?

DDX

How is thrombocytopenia-absent radius (TAR) syndrome differentiated from Fanconi anemia?

How is thrombocytopenia-absent radius (TAR) syndrome differentiated from amegakaryocytic thrombocytopenia with radioulnar synostosis (ARTUS)?

How is thrombocytopenia-absent radius (TAR) syndrome differentiated from RAPADILINO syndrome?

How is thrombocytopenia-absent radius (TAR) syndrome differentiated from Roberts syndrome?

How is thrombocytopenia-absent radius (TAR) syndrome differentiated from thalidomide embryopathy?

How is thrombocytopenia-absent radius (TAR) syndrome differentiated from trisomy 18 (Edward syndrome)?

How is thrombocytopenia-absent radius (TAR) syndrome differentiated from VACTERL (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities)?

What are the differential diagnoses for Thrombocytopenia-Absent Radius Syndrome?

Workup

What is the role of CBC count in the diagnosis of thrombocytopenia-absent radius (TAR) syndrome?

Which genetic findings are characteristic of thrombocytopenia-absent radius (TAR) syndrome?

What is the role of imaging studies in the workup of thrombocytopenia-absent radius (TAR) syndrome?

Which bone marrow findings are characteristic of thrombocytopenia-absent radius (TAR) syndrome?

What is the role of cordocentesis in the workup of thrombocytopenia-absent radius (TAR) syndrome?

Treatment

How is thrombocytopenia-absent radius (TAR) syndrome treated?

What is the role of surgery in the treatment of thrombocytopenia-absent radius (TAR) syndrome?

Which specialist consultations are beneficial to patients with thrombocytopenia-absent radius (TAR) syndrome?

Which dietary modifications are used in the treatment of thrombocytopenia-absent radius (TAR) syndrome?

Which activity modifications are used in the treatment of thrombocytopenia-absent radius (TAR) syndrome?

Medications

What is the role of medications in the treatment of thrombocytopenia-absent radius (TAR) syndrome?

Which medications in the drug class Synthetic antidiuretic hormones are used in the treatment of Thrombocytopenia-Absent Radius Syndrome?

Which medications in the drug class Antifibrinolytic agents are used in the treatment of Thrombocytopenia-Absent Radius Syndrome?

Follow-up

How is response to platelet transfusion monitored in thrombocytopenia-absent radius (TAR) syndrome treatment?

What is included in inpatient care for thrombocytopenia-absent radius (TAR) syndrome?

How are injuries prevented in patients with thrombocytopenia-absent radius (TAR) syndrome?

What are the possible complications of thrombocytopenia-absent radius (TAR) syndrome?

What is the prognosis of thrombocytopenia-absent radius (TAR) syndrome?

What is included in patient education about thrombocytopenia-absent radius (TAR) syndrome?