eMedicine Specialties > Pediatrics: General Medicine > Hematology

Thrombocytopenia-Absent Radius Syndrome: Multimedia

Author: John K Wu, MBBS, MSc, FRCP(C), Clinical Professor, Department of Pediatrics, Division of Hematology-Oncology-BMT, University of British Columbia, Canada
Coauthor(s): Michelle P Wong, MD, Staff Physician, Department of Hematopathology, University of British Columbia Faculty of Medicine, Canada; Suzan Williams, MD, MSc, FRCPC, Staff Physician, Division of Hematology, The Hospital for Sick Children, Canada
Contributor Information and Disclosures

Updated: Sep 17, 2009

Multimedia

Infant with thrombocytopenia-absent radius syndro...
(Enlarge Image)
Media file 1: 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.
[ CLOSE WINDOW ]
Infant with thrombocytopenia-absent radius syndro...

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 p...
(Enlarge Image)
Media file 2: Same infant as in Media files 1 and 3. Close-up photograph of arm and forearm (volar aspect). Note the petechiae.
[ CLOSE WINDOW ]
Same infant as in Media files 1 and 3. Close-up p...

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 p...
(Enlarge Image)
Media file 3: Same infant as in Media files 1 and 2. Close-up photograph of arm and forearm (dorsal aspect).
[ CLOSE WINDOW ]
Same infant as in Media files 1 and 2. Close-up p...

Same infant as in Media files 1 and 2. Close-up photograph of arm and forearm (dorsal aspect).

More on Thrombocytopenia-Absent Radius Syndrome

Overview: Thrombocytopenia-Absent Radius Syndrome
Differential Diagnoses & Workup: Thrombocytopenia-Absent Radius Syndrome
Treatment & Medication: Thrombocytopenia-Absent Radius Syndrome
Follow-up: Thrombocytopenia-Absent Radius Syndrome
Multimedia: Thrombocytopenia-Absent Radius Syndrome
References
[ CLOSE WINDOW ]

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. 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].

  8. 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].

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

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

  11. 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].

  12. 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].

  13. 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].

  14. 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].

  15. 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].

  16. [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].

  17. 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].

  18. 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].

  19. 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].

[ CLOSE WINDOW ]

Further Reading

[ CLOSE WINDOW ]

Keywords

thrombocytopenia-absent radius syndrome, TAR syndrome, tetraphocomelia-thrombocytopenia syndrome, hypomegakaryocytic thrombocytopenia, absent radii, gene, gene, rubella, Roberts syndrome, cow's milk allergy, purpura, petechiae, epistaxis, melena, hemoptysis, hematuria, hematemesis, mental retardation, diarrhea, bilateral radial aplasia, radial club hand, hypoplastic carpals and phalanges, hypoplastic ulnae, humeri, shoulder girdles, syndactyly, clinodactyly, hip dislocation, femoral torsion, tetralogy of Fallot, atrial septal defect, ventricular septal defect, VSD, micrognathia, hypertelorism, Meckel diverticulum, hyperhidrosis, short stature, Fanconi anemia, Blackfan-Diamond syndrome, treatment, diagnosis

[ CLOSE WINDOW ]

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.

Medical Editor

J Martin Johnston, MD, Associate Professor of Pediatrics, Mercer University School of Medicine; Director of Pediatric Hematology/Oncology, Backus Children's Hospital; Consulting Oncologist/Hematologist, St Damien's Pediatric Hospital
J Martin Johnston, MD is a member of the following medical societies: American Society of Pediatric Hematology/Oncology
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

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; 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.

CME Editor

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

 
 
HONcode

We subscribe to the
HONcode principles of the
Health On the Net Foundation

All material on this website is protected by copyright, Copyright© 1994- by Medscape.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.