SavedAdd your journal

Journals / The Journal of Pediatric Research / 2017 / Cilt: 4 - Sayı: 2

Geç Preterm Bir Yenidoğanda Tanı Alan Trombositopeni Radius Yokluğu Sendromu

Late Preterm Infant Diagnosed with Thrombocytopenia Absent Radius Syndrome

Övgü BÜKE
Sultan BENT
Tuğçe Damla TÜRKPENÇE
Şahin HAMİLCİKAN
EMRAH CAN
Pages
75–77
DOI
—
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Here we report a one-day-old late preterm neonate diagnosed with TAR syndrome by clinical and laboratory data, and confirmed by genetic studies.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Thrombocytopenia absent radius (TAR) syndrome is a rare genetic anomaly presenting with bilateral radial aplasia and thrombocytopenia.
📊
Key Findings & Data:Pathophysiology is not fully understood.
💡
Conclusion & Impact:Here we report a one-day-old late preterm neonate diagnosed with TAR syndrome by clinical and laboratory data, and confirmed by genetic studies.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Thrombocytopenia absent radius (TAR) syndrome is a rare genetic anomaly presenting with bilateral radial aplasia and thrombocytopenia. Pathophysiology is not fully understood. Patients may need to receive thrombocyte transfusions for better neurological outcome and frequent followup may prevent serious complications such as intracranial hemorrhage. Here we report a one-day-old late preterm neonate diagnosed with TAR syndrome by clinical and laboratory data, and confirmed by genetic studies.

Özet

Trombositopeni radius yokluğu (TAR) sendromu, nadir görülen bilateral radius yokluğu ve trombositopeni ile karakterize bir sendromdur. Patofizyolojisi tam olarak anlaşılamamıştır. Hastalar nörolojik gelişimlerinin etkilenmemesi ve intrakraniyal kanama gibi izlemde gelişebilecek komplikasyonlardan korunmak için trombosit transfüzyonuna gereksinim duyabilirler. Burada bir günlük geç preterm bir yenidoğanda klinik ve laboratuvar olarak tanı konulan ve genetik çalışmalar ile konfirme edilen TAR sendromu olgusu sunulmuştur.

🔖

Cite This Article

BÜKE, Ö., BENT, S., TÜRKPENÇE, T. D., HAMİLCİKAN, Ş., CAN, E. (2017). Geç Preterm Bir Yenidoğanda Tanı Alan Trombositopeni Radius Yokluğu Sendromu. The Journal of Pediatric Research, Cilt: 4 - Sayı: 2, 75–77. https://ajindex.com/articles/362974

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (8)

  1. Kumar C, Sharma D, Pandita A, Bhalerao S. Thrombocytopenia absent radius syndrome with Tetralogy of Fallot: a rare association. Int Med Case Rep J 2015;8:81-5
  2. McLaurin TM, Bukrey CD, Lovett RJ, Mochel DM. Management of thrombocytopenia-absent radius (TAR) syndrome. J Pediatr Orthop 1999;19:289-96
  3. Hall JG. Thrombocytopenia and absent radius syndrome. J Med Genet 1987;24:79-83
  4. Labrune P, Pons JC, Khalil M, et al. Antenatal thrombocytopenia in three patients with TAR (thrombocytopenia with absent radii) syndrome. Prenat Diagn 1993;13:463-6
  5. Hedberg VA, Lipton JM. Thrombocytopenia with absent radii. A review of 100 cases. Am J Pediatr Hematol Oncol 1988;10:51-64
  6. Teufel M, Enders H, Dopfer R. Consanguinity in a Turkish family with thrombocytopenia with absent radii (TAR) syndrome. Hum Genet 1983;64:94-6
  7. Fromm B, Niethard FU, Marquardt E. Thrombocytopenia and absent radius (TAR) syndrome. Int Orthop 1991;15:95-9
  8. Gounder DS, Pullon HW, Ockelford PA, Nicol RO. Clinical manifestations of the thrombocytopenia and absent radii (TAR) syndrome. Aust N Z J Med 1989;19:479-82.