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Clınıcal Approach To Patıents Wıth Klıppel-Feıl Syndrome

Yıl 2021, Cilt: 13 Sayı: 1, 135 - 140, 11.03.2021
https://doi.org/10.18521/ktd.791532

Öz

Objective: Klippel-Feil Syndrome (KFS) is is a congenital syndrome that has a short neck, fusion in at least 2 cervical vertebrae, and a decrease in neck movements in the classic triad. KFS patients may have a higher risk for mechanical spinal cord injury because of unstable cervical segments. Patients should be examined extensively, since many anomalies may accompany KFS. In the current article, we aimed to present our cases with KFS with clinical, radiological, and genetic results.

Materials and Methods: In this study, a total of 317 cervical MRIs required by Pediatric Surgery between 2012-2019 years with various indications and 90 cervical CT reports in 2019 were evaluated. Information was collected retrospectively with a file scan. Clinical, radiological, biochemical and genetic evaluation of KFS cases were performed.

Results: All of our patients with KFS had Sprengel deformity, cervical fusion anomaly, restricted neck movements, short neck, low hairline, and growth retardation. Growth Differentiating Factor 6 (GDF6) gene was negative in all our patients.


Conclusion: The necessity of treatment depends more on the pathologies that may be caused by deformity and other systemic findings. The patient should be cautious and avoid heavy exercise because of neurological deficits seen after minor trauma in patients with KFS.

Kaynakça

  • 1) Giampietro PF, Raggio CL, Blank RD, et al. Clinical, genetic and environmental factors associated with congenital vertebral malformations. Mol Syndromol. 2013(4):94-105. doi:10.1159/000345329.
  • 2) Eroz R, Dogan M, Bolu S, et al. A seven years old girl with Klippel-Feil Syndrome, bilateral Sprengel deformity, congenital unilateral renal agenesis and a heterozygous mutation M680I(G > C) in the MEFV gene. Konuralp Medical Journal. 2017;9(2):167-170.
  • 3) Karaca E, Yuregir OO, Bozdogan ST, et al. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome. Am J Med Genet. Part A 2015;9999A:1-5. doi:10.1002/ajmg.a.37263.
  • 4) Thomsen MN, Schneider U, Weber M, et al. Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I-III. Spine J. 1997;22(4):396-401.
  • 5) Mahiroğullari M, Ozkan H, Yildirim N, et al. Klippel-Feil syndrome and associated congenital abnormalities: evaluation of 23 cases. Acta Orthop Traumatol Turc. 2006;40(3):234-9.
  • 6) Moses JT, Williams DM, Rubery PT, et al. The prevalence of Klippel-Feil syndrome in pediatric patients: analysis of 831 CT scans. J Spine Surg. 2019;5(1):66-71. doi:10.21037/jss.2019.01.02
  • 7) Gruber J, Saleh A, Bakhsh W, et al. The Prevalence of Klippel-Feil Syndrome: A Computed Tomography-Based Analysis of 2,917 Patients. Spine Deform. 2018;6(4):448-53. doi:10.1016/j.jspd.2017.12.002
  • 8) Menger RP and Notarianni C. Klippel Feil Syndrome. 2019 Feb 22. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2019. Available from http://www.ncbi.nlm.nih.gov/books/NBK493157/PubMed PMID: 29630209.
  • 9) Hitosugi T, Tsukamoto M and Yokoyama T. Anesthetic management for twice in a child with Klippel-Feil Syndrome. Masui. 2017;66(5):554-7.

Klippel-Feil Sendromlu Hastalara Klinik Yaklaşım

Yıl 2021, Cilt: 13 Sayı: 1, 135 - 140, 11.03.2021
https://doi.org/10.18521/ktd.791532

Öz

Amaç: Klippel-Feil Sendromu (KFS), klasik triadında kısa boyun, en az 2 servikal omurda füzyon anomalisi ve boyun hareketlerinde azalmanın olduğu konjenital bir malformasyondur. KFS’li hastalar stabil olmayan boyun segmentleri nedeniyle, mekanik olarak yüksek spinal kord hasarı riskine sahiptirler. Bu hastalar, KFS'ye birçok anomalinin eşlik etmesi muhtemel olduğundan kapsamlı bir şekilde muayene edilmelidir. Biz bu çalışmada KFS olgularımızı klinik, radyolojik, biyokimyasal ve genetik sonuçlarıyla sunmayı amaçladık.

Gereç ve Yöntem: 2012-2019 yılları arasında çeşitli endikasyonlarla; Çocuk Cerrahisi kliniği tarafından istenen toplam 317 servikal MR ve 2019 yılı içerisinde çekilen toplam 90 servikal BT raporu değerlendirildi. Saptanan KFS olgularının bilgileri dosya taraması yöntemiyle toplandı. KFS olgularının klinik, radyolojik, biyokimyasal ve genetik değerlendirmeleri yapıldı.

Bulgular: Hastalarımızın hepsinde Sprengel deformitesi (yüksek skapula), servikal füzyon anomalisi, boyun hareketlerinde kısıtlılık, kısa boyun, düşük saç çizgisi ve büyüme geriliği bulguları mevcuttu. Tüm hastalarımızda Büyüme Farklılaştırıcı Faktör 6 (GDF6) geni negatifti.

Sonuç: Tedavinin gerekliliği deformite ve diğer sistemik bulguların neden olabileceği patolojilere bağlıdır. KFS hastalarında küçük travma sonrası görülen nörolojik defisitler nedeniyle hasta temkinli olmalı ve ağır egzersizden kaçınmalıdır.

Kaynakça

  • 1) Giampietro PF, Raggio CL, Blank RD, et al. Clinical, genetic and environmental factors associated with congenital vertebral malformations. Mol Syndromol. 2013(4):94-105. doi:10.1159/000345329.
  • 2) Eroz R, Dogan M, Bolu S, et al. A seven years old girl with Klippel-Feil Syndrome, bilateral Sprengel deformity, congenital unilateral renal agenesis and a heterozygous mutation M680I(G > C) in the MEFV gene. Konuralp Medical Journal. 2017;9(2):167-170.
  • 3) Karaca E, Yuregir OO, Bozdogan ST, et al. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome. Am J Med Genet. Part A 2015;9999A:1-5. doi:10.1002/ajmg.a.37263.
  • 4) Thomsen MN, Schneider U, Weber M, et al. Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I-III. Spine J. 1997;22(4):396-401.
  • 5) Mahiroğullari M, Ozkan H, Yildirim N, et al. Klippel-Feil syndrome and associated congenital abnormalities: evaluation of 23 cases. Acta Orthop Traumatol Turc. 2006;40(3):234-9.
  • 6) Moses JT, Williams DM, Rubery PT, et al. The prevalence of Klippel-Feil syndrome in pediatric patients: analysis of 831 CT scans. J Spine Surg. 2019;5(1):66-71. doi:10.21037/jss.2019.01.02
  • 7) Gruber J, Saleh A, Bakhsh W, et al. The Prevalence of Klippel-Feil Syndrome: A Computed Tomography-Based Analysis of 2,917 Patients. Spine Deform. 2018;6(4):448-53. doi:10.1016/j.jspd.2017.12.002
  • 8) Menger RP and Notarianni C. Klippel Feil Syndrome. 2019 Feb 22. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2019. Available from http://www.ncbi.nlm.nih.gov/books/NBK493157/PubMed PMID: 29630209.
  • 9) Hitosugi T, Tsukamoto M and Yokoyama T. Anesthetic management for twice in a child with Klippel-Feil Syndrome. Masui. 2017;66(5):554-7.
Toplam 9 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Sağlık Kurumları Yönetimi
Bölüm Makaleler
Yazarlar

Murat Kaya 0000-0001-6650-0145

Murat Kabaklıoğlu 0000-0002-2894-0470

Recep Eröz 0000-0003-0840-2613

Yayımlanma Tarihi 11 Mart 2021
Kabul Tarihi 2 Aralık 2020
Yayımlandığı Sayı Yıl 2021 Cilt: 13 Sayı: 1

Kaynak Göster

APA Kaya, M., Kabaklıoğlu, M., & Eröz, R. (2021). Clınıcal Approach To Patıents Wıth Klıppel-Feıl Syndrome. Konuralp Medical Journal, 13(1), 135-140. https://doi.org/10.18521/ktd.791532
AMA Kaya M, Kabaklıoğlu M, Eröz R. Clınıcal Approach To Patıents Wıth Klıppel-Feıl Syndrome. Konuralp Medical Journal. Mart 2021;13(1):135-140. doi:10.18521/ktd.791532
Chicago Kaya, Murat, Murat Kabaklıoğlu, ve Recep Eröz. “Clınıcal Approach To Patıents Wıth Klıppel-Feıl Syndrome”. Konuralp Medical Journal 13, sy. 1 (Mart 2021): 135-40. https://doi.org/10.18521/ktd.791532.
EndNote Kaya M, Kabaklıoğlu M, Eröz R (01 Mart 2021) Clınıcal Approach To Patıents Wıth Klıppel-Feıl Syndrome. Konuralp Medical Journal 13 1 135–140.
IEEE M. Kaya, M. Kabaklıoğlu, ve R. Eröz, “Clınıcal Approach To Patıents Wıth Klıppel-Feıl Syndrome”, Konuralp Medical Journal, c. 13, sy. 1, ss. 135–140, 2021, doi: 10.18521/ktd.791532.
ISNAD Kaya, Murat vd. “Clınıcal Approach To Patıents Wıth Klıppel-Feıl Syndrome”. Konuralp Medical Journal 13/1 (Mart 2021), 135-140. https://doi.org/10.18521/ktd.791532.
JAMA Kaya M, Kabaklıoğlu M, Eröz R. Clınıcal Approach To Patıents Wıth Klıppel-Feıl Syndrome. Konuralp Medical Journal. 2021;13:135–140.
MLA Kaya, Murat vd. “Clınıcal Approach To Patıents Wıth Klıppel-Feıl Syndrome”. Konuralp Medical Journal, c. 13, sy. 1, 2021, ss. 135-40, doi:10.18521/ktd.791532.
Vancouver Kaya M, Kabaklıoğlu M, Eröz R. Clınıcal Approach To Patıents Wıth Klıppel-Feıl Syndrome. Konuralp Medical Journal. 2021;13(1):135-40.