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Journals / Şişli Etfal Hastanesi Tıp Bülteni / 2007 / Cilt: 41 - Sayı: 2

Anesthesia application in Kniest dysplasia

Kniest displazisinde anestezi uygulaması

Hacer Şebnem TÜRK
Hale DOBRUCALI
Ayşe HANCI
Metin BEKTAŞ
Ulufer SİVRİKAYA
Raffi ARMAĞAN
Pages
42–44
DOI
—
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AI Summary & Key Takeaways

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

Anesthesia should not be performed before detailed evaluation of these patients.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Kniest dysplasia is an autosomal dominant hereditary disease.
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Key Findings & Data:This disorder represents one of a spectrum of chondrodysplasias due to mutations in the gene coding for type II collagen (COL 2A1).
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Conclusion & Impact:Anesthesia should not be performed before detailed evaluation of these patients.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Kemik hastalıkları · gelişimsel · Çocuk

Abstract

Kniest dysplasia is an autosomal dominant hereditary disease. This disorder represents one of a spectrum of chondrodysplasias due to mutations in the gene coding for type II collagen (COL 2A1). This condition is characterized by dwarfism, enlarged joints and various skeletal abnormalities and problems with vision and hearing. During anesthesia, there are some risks related to all spine instability, cleft palate, low lung capacity. Anesthesia should not be performed before detailed evaluation of these patients.

Özet

Kniest displazisi otozomal dominant geçişli kalıtımsal bir hastalıktır. Tip II kollajen genindeki (COL 2A1) mutasyonların neden olduğu bir kondrodisplazi tablosudur. Bu durum cücelik, genişlemiş eklemler, çeşitli iskelet anomalileri, görme ve duyma problemleri ile karakterizedir. Anestezi esnasında düşük akciğer kapasitesi, damak yarığı ve omurganın stabil olmaması nedeniyle bazı riskler mevcuttur. Böyle hastalara detaylı incelemeler yapılmadan anestezi verilmemelidir.

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Cite This Article

TÜRK, H. Ş., DOBRUCALI, H., HANCI, A., BEKTAŞ, M., SİVRİKAYA, U., ARMAĞAN, R. (2007). Anesthesia application in Kniest dysplasia. Şişli Etfal Hastanesi Tıp Bülteni, Cilt: 41 - Sayı: 2, 42–44. https://ajindex.com/articles/363892

References (5)

  1. Baitner AC, Maurer SG, Gruen MB, Di Cesare PE: The genetic basis of the osteochondrodysplasias. J Pediatr Orthop, 20:594-605, 2000
  2. Pimdin DL, Lachman R, Unger S: Chondrodysplasias. In: Emery and Rimoin's Principles and Practice of Medical Genetics.Vol3.4th ed. London, Churchill Livingstone, 2002,4071-4116
  3. Dominguez R, Talmachoff P: Diagnostic imaging update in skeletal dysplasias. Clin Imaging, Jul-Sep; 17(3): 222- 34,1993
  4. Segawa Y, Enomoto H, Nakagawa T, Lijima Y: Growth causes difficult tracheal intubation in a patient with Kniest dysplasia. J Anesth, 15 (2): 104-5, 2001
  5. Roberts W, Henson LC: Anesthesia for scoliosis: dwarfism and congenitally absent odontoid process. Aana J, Aug; 63(4):332-7,1995.