BibTex RIS Cite

Thrombocytopenia and absent radii syndrome with type III phocomelia and orthopaedic management

Year 1996, Volume: 30 Issue: 4, 433 - 436, 11.09.2006

Yusuf Ozturkmen Mehmet Demirhan Hulya Kayserili Onder Kilicoglu Onder Yazicioglu

Abstract

Thrombocytopenia with radial aplasia (TAR) syndrome is a rare congenital defect with skeletal system abnormalities accompanied usually by cardiac, hematological and gastrointestinal system abnormalities. Our case is a 6-month old infant with TAR-syndrome who also has type III distal phocomelia in which the hand is attached directly to humerus without a forearm segment. Patients with TAR syndrome and phocomelia are not described in literature. Spontaneous remission is expected after 12 months if the thrombocytopenia crisis' are supported by thrombocyte transfusions. These patients have good prognosis for longevity. Whole blood count should be performed for the infants with radius aplasia at birth to assess the correct diagnosis of this syndrome. The treatment of orthopaedic problems in TAR syndrome should be planned after the first year when the spontaneous remission is achieved.

Keywords

-

Tip III fokomeli’li bir olguda trombositopeni-radius aplazisi (TAR) sendromu ve ortopedik yaklaşımın irdelenmesi

Year 1996, Volume: 30 Issue: 4, 433 - 436, 11.09.2006

Yusuf Ozturkmen Mehmet Demirhan Hulya Kayserili Onder Kilicoglu Onder Yazicioglu

Abstract

TAR sendromu, trombositopeni ile birlikte iskelet sistemi anomalileri ve bazen de kardiak, hematolojik ve gastrointestinal sistem anomalileri ile birlikte olabilen ve otozomal resessif olarak kalıtılan bir hastalıktır. Vakamız, elin önkol segmenti olmadan rudimenter bir humerus ile birleştiği Tip 3 distal fokomelisi olan 6 aylık TAR sendromlu bir bebektir. Literatürde TAR sendromuna eşlik eden fokomeliler tarif edilmemiştir. İlk bir yıl içindeki trombositopeni krizleri trombosit transfüzyonları ile desteklenirse 12 ay sonra spontan remisyon olur. Bu sendroma çok nadir olarak rastlanılmasma karşın, bu hastaların yaşam beklentileri çok iyidir. Radius aplazili yeni doğanlarda hemen tam kan sayımı yapılmalı ve bu sendromun doğru teşhisi konmalıdır. TAR sendromlu vakalarda ortopedik problemlerin tedavisi 1 yaşından sonra spontan remisyon geliştiğinde planlanmalıdır.

Keywords

-

There are 0 citations in total.

Details

Primary Language English
Journal Section Case Report
Authors

Yusuf Ozturkmen This is me

Mehmet Demirhan This is me

Hulya Kayserili This is me

Onder Kilicoglu This is me

Onder Yazicioglu This is me

Publication Date September 11, 2006
Published in Issue Year 1996 Volume: 30 Issue: 4

Cite

APA Ozturkmen, Y., Demirhan, M., Kayserili, H., Kilicoglu, O., et al. (2006). Thrombocytopenia and absent radii syndrome with type III phocomelia and orthopaedic management. Acta Orthopaedica Et Traumatologica Turcica, 30(4), 433-436. https://doi.org/10.3944/aott.v30i4.2006
AMA Ozturkmen Y, Demirhan M, Kayserili H, Kilicoglu O, Yazicioglu O. Thrombocytopenia and absent radii syndrome with type III phocomelia and orthopaedic management. Acta Orthopaedica et Traumatologica Turcica. September 2006;30(4):433-436. doi:10.3944/aott.v30i4.2006
Chicago Ozturkmen, Yusuf, Mehmet Demirhan, Hulya Kayserili, Onder Kilicoglu, and Onder Yazicioglu. “Thrombocytopenia and Absent Radii Syndrome With Type III Phocomelia and Orthopaedic Management”. Acta Orthopaedica Et Traumatologica Turcica 30, no. 4 (September 2006): 433-36. https://doi.org/10.3944/aott.v30i4.2006.
EndNote Ozturkmen Y, Demirhan M, Kayserili H, Kilicoglu O, Yazicioglu O (September 1, 2006) Thrombocytopenia and absent radii syndrome with type III phocomelia and orthopaedic management. Acta Orthopaedica et Traumatologica Turcica 30 4 433–436.
IEEE Y. Ozturkmen, M. Demirhan, H. Kayserili, O. Kilicoglu, and O. Yazicioglu, “Thrombocytopenia and absent radii syndrome with type III phocomelia and orthopaedic management”, Acta Orthopaedica et Traumatologica Turcica, vol. 30, no. 4, pp. 433–436, 2006, doi: 10.3944/aott.v30i4.2006.
ISNAD Ozturkmen, Yusuf et al. “Thrombocytopenia and Absent Radii Syndrome With Type III Phocomelia and Orthopaedic Management”. Acta Orthopaedica et Traumatologica Turcica 30/4 (September 2006), 433-436. https://doi.org/10.3944/aott.v30i4.2006.
JAMA Ozturkmen Y, Demirhan M, Kayserili H, Kilicoglu O, Yazicioglu O. Thrombocytopenia and absent radii syndrome with type III phocomelia and orthopaedic management. Acta Orthopaedica et Traumatologica Turcica. 2006;30:433–436.
MLA Ozturkmen, Yusuf et al. “Thrombocytopenia and Absent Radii Syndrome With Type III Phocomelia and Orthopaedic Management”. Acta Orthopaedica Et Traumatologica Turcica, vol. 30, no. 4, 2006, pp. 433-6, doi:10.3944/aott.v30i4.2006.
Vancouver Ozturkmen Y, Demirhan M, Kayserili H, Kilicoglu O, Yazicioglu O. Thrombocytopenia and absent radii syndrome with type III phocomelia and orthopaedic management. Acta Orthopaedica et Traumatologica Turcica. 2006;30(4):433-6.