Thrombocytopenia-Absent Radius Syndrome Workup

  • Author: John K Wu, MBBS, MSc, FRCP(C); Chief Editor: Robert J Arceci, MD, PhD   more...
 
Updated: Apr 16, 2012
 

Laboratory Studies

CBC count

The platelet count may be 15-30 X 109/L. Eosinophilia is observed in 50% of patients.

Leukocytosis may be present, with a WBC count >35 X 109/L with a left shift and leukemoid reaction.

Anemia may be present secondary to bleeding.

Genetic findings

Chromosomes are normal. Findings on chromosomal breakage studies with clastogenic agents are normal.

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Imaging Studies

Characteristic skeletal involvement (ie, absent radii) is detectable during prenatal transvaginal ultrasonography as early as 13 weeks' gestation, when sufficient fetal skeletal ossification is present.

Upper-limb abnormalities on prenatal sonograms suggest numerous syndromes in the differential diagnosis.

After radial aplasia is observed, ultrasonography of the extremities, face, and kidneys is indicated.

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Other Tests

Sampling of the bone marrow reveals the following findings:

  • Normal or hypercellular bone marrow
  • Decreased, absent, or immature megakaryocytes
  • Small, basophilic, vacuolated megakaryocytes
  • Erythroid hyperplasia
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Procedures

Cordocentesis can be performed to confirm known genetic conditions. Cordocentesis poses a 1-2% risk of fetal loss and a risk of prolonged bleeding from the umbilical puncture site.

Weinblatt and associates performed in utero platelet transfusion of a fetus with radial aplasia at 37 weeks' gestation after cordocentesis revealed a platelet count of 40 X 109/L.[14] The infant was delivered within 24 hours of the transfusion with no complications.

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Contributor Information and Disclosures
Author

John K Wu, MBBS, MSc, FRCP(C)  Clinical Professor, Department of Pediatrics, Division of Hematology-Oncology-BMT, University of British Columbia, Canada

John K Wu, MBBS, MSc, FRCP(C) is a member of the following medical societies: American Society of Hematology and Canadian Medical Association

Disclosure: Nothing to disclose.

Coauthor(s)

Michelle P Wong, MD  Staff Physician, Department of Hematopathology, University of British Columbia Faculty of Medicine, Canada

Disclosure: Nothing to disclose.

Suzan Williams, MD, MSc, FRCPC  Staff Physician, Division of Hematology, The Hospital for Sick Children, Canada

Suzan Williams, MD, MSc, FRCPC is a member of the following medical societies: American Academy of Pediatrics, American Society of Hematology, Canadian Medical Association, Canadian Paediatric Society, College of Physicians and Surgeons of Ontario, Ontario Medical Association, and Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

Specialty Editor Board

J Martin Johnston, MD  Associate Professor of Pediatrics, Mercer University School of Medicine; Director of Hematology/Oncology, The Children's Hospital at Memorial University Medical Center; Consulting Oncologist/Hematologist, St Damien's Pediatric Hospital

J Martin Johnston, MD is a member of the following medical societies: American Academy of Pediatrics and American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

James L Harper, MD  Associate Professor, Department of Pediatrics, Division of Hematology/Oncology and Bone Marrow Transplantation, Associate Chairman for Education, Department of Pediatrics, University of Nebraska Medical Center; Assistant Clinical Professor, Department of Pediatrics, Creighton University School of Medicine; Director, Continuing Medical Education, Children's Memorial Hospital; Pediatric Director, Nebraska Regional Hemophilia Treatment Center

James L Harper, MD is a member of the following medical societies: American Academy of Pediatrics, American Association for Cancer Research, American Federation for Clinical Research, American Society of Hematology, American Society of Pediatric Hematology/Oncology, Council on Medical Student Education in Pediatrics, and Hemophilia and Thrombosis Research Society

Disclosure: Nothing to disclose.

Helen SI Chan, MBBS, FRCP(C), FAAP  Associate Senior Scientist, Research Institute; Professor, Division of Hematology/Oncology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto Faculty of Medicine, Canada

Helen SI Chan, MBBS, FRCP(C), FAAP is a member of the following medical societies: American Academy of Pediatrics, American Association for Cancer Research, American Society of Hematology, and Royal College of Physicians and Surgeons of Canada

Disclosure: Nothing to disclose.

Chief Editor

Robert J Arceci, MD, PhD  King Fahd Professor of Pediatric Oncology, Professor of Pediatrics, Oncology and the Cellular and Molecular Medicine Graduate Program, Kimmel Comprehensive Cancer Center at Johns Hopkins University School of Medicine

Robert J Arceci, MD, PhD is a member of the following medical societies: American Association for Cancer Research, American Association for the Advancement of Science, American Pediatric Society, American Society of Hematology, and American Society of Pediatric Hematology/Oncology

Disclosure: Nothing to disclose.

References

  1. Ballmaier M, Schulze H, Strauss G, et al. Thrombopoietin in patients with congenital thrombocytopenia and absent radii: elevated serum levels, normal receptor expression, but defective reactivity to thrombopoietin. Blood. Jul 15 1997;90(2):612-9. [Medline]. [Full Text].

  2. Sekine I, Hagiwara T, Miyazaki H, et al. Thrombocytopenia with absent radii syndrome: studies on serum thrombopoietin levels and megakaryopoiesis in vitro. J Pediatr Hematol Oncol. Jan-Feb 1998;20(1):74-8. [Medline].

  3. Letestu R, Vitrat N, Masse A, et al. Existence of a differentiation blockage at the stage of a megakaryocyte precursor in the thrombocytopenia and absent radii (TAR) syndrome. Blood. Mar 1 2000;95(5):1633-41. [Medline]. [Full Text].

  4. Geddis AE. Congenital amegakaryocytic thrombocytopenia and thrombocytopenia with absent radii. Hematol Oncol Clin North Am. Apr 2009;23(2):321-31. [Medline].

  5. Fleischman RA, Letestu R, Mi X, et al. Absence of mutations in the HoxA10, HoxA11 and HoxD11 nucleotide coding sequences in thrombocytopenia with absent radius syndrome. Br J Haematol. Feb 2002;116(2):367-75. [Medline].

  6. Klopocki E, Schulze H, Strauss G, et al. Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet. Feb 2007;80(2):232-40. [Medline].

  7. Guastadisegni MC, Roberto R, L'Abbate A, Palumbo O, Carella M, Giordani L, et al. Thrombocytopenia-absent-radius syndrome in a child showing a larger 1q21.1 deletion than the one in his healthy mother, and a significant downregulation of the commonly deleted genes. Eur J Med Genet. Feb 2012;55(2):120-3. [Medline].

  8. Hedberg VA, Lipton JM. Thrombocytopenia with absent radii. A review of 100 cases. Am J Pediatr Hematol Oncol. Spring 1988;10(1):51-64. [Medline].

  9. Greenhalgh KL, Howell RT, Bottani A, et al. Thrombocytopenia-absent radius syndrome: a clinical genetic study. J Med Genet. Dec 2002;39(12):876-81. [Medline]. [Full Text].

  10. Hall JG, Levin J, Kuhn JP, et al. Thrombocytopenia with absent radius (TAR). Medicine (Baltimore). Nov 1969;48(6):411-39. [Medline].

  11. Toriello HV. Thrombocytopenia-absent radius syndrome. Semin Thromb Hemost. Sep 2011;37(6):707-12. [Medline].

  12. Sachdev P. Brief psychosis in thrombocytopenia-absent radius syndrome: a case report. Aust N Z J Psychiatry. Sep 2005;39(9):841-2. [Medline].

  13. Skorka A, Bielicka-Cymermann J, Gieruszczak-Bialek D, Korniszewski L. Thrombocytopenia-absent radius (tar) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis and horseshoe kidney. Genet Couns. 2005;16(4):377-82. [Medline].

  14. Weinblatt M, Petrikovsky B, Bialer M, et al. Prenatal evaluation and in utero platelet transfusion for thrombocytopenia absent radii syndrome. Prenat Diagn. Sep 1994;14(9):892-6. [Medline].

  15. Coccia P, Ruggiero A, Mastrangelo S, Attinà G, Scalzone M, Pittiruti M, et al. Management of children with thrombocytopenia-absent radius syndrome: an institutional experience. J Paediatr Child Health. Feb 2012;48(2):166-9. [Medline].

  16. Dempfle CE, Burck C, Grutzmacher T et al. Increase in platelet count in response to rHuEpo in patient with thromboctopenia and absent radii syndrome. Blood. 2001;97 (7):2189-90. [Medline]. [Full Text].

  17. Aquino VM, Mustafa MM, Vackus L et al. Recombinant interleukin-6 in the treatment of congenital thrombocytopenia associated with absent radii. J Pediatr Hematol Oncol. 1998;20 (5):474-6. [Medline].

  18. Fadoo Z, Naqvi SM. Acute myeloid leukemia in a patient with thrombocytopenia with absent radii syndrome. J Pediatr Hematol Oncol. Feb 2002;24(2):134-5. [Medline].

  19. [Guideline] Finnish Medical Society Duodecim. Thrombocytopenia. In: EBM Guidelines. Evidence-Based Medicine [Internet]. Helsinki, Finland: Wiley Interscience. John Wiley & Sons; 2007 Apr 27. [Full Text].

  20. MacDonald MR, Schaefer GB, Olney AH, Patton DF. Hypoplasia of the cerebellar vermis and corpus callosum in thrombocytopenia with absent radius syndrome on MRI studies. Am J Med Genet. Mar 1 1994;50(1):46-50. [Medline].

  21. McLaurin TM, Bukrey CD, Lovett RJ, Mochel DM. Management of thrombocytopenia-absent radius (TAR) syndrome. J Pediatr Orthop. May-Jun 1999;19(3):289-96. [Medline].

  22. Urban M, Opitz C, Bommer C, et al. Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome. Am J Med Genet. Sep 23 1998;79(3):155-60. [Medline].

 
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Infant with thrombocytopenia-absent radius syndrome. The arms and forearms are shortened, with radial deviation of both hands because of the absence of bilateral radii. The legs are normal. See also Media files 2 and 3.
Same infant as in Media files 1 and 3. Close-up photograph of arm and forearm (volar aspect). Note the petechiae.
Same infant as in Media files 1 and 2. Close-up photograph of arm and forearm (dorsal aspect).
 
 
 
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