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Journals / Gülhane Tıp Dergisi / 2016 / Cilt: 58 - Sayı: 1

Klippel Feil sendromlu erişkinlerdeki muhtelif organ anormalliklerinin farkında mıyız?

Do we know multifarious organ abnormalities of adults with Klippel-Feil syndrome?

Selami ÇAKMAK
Osman RODOP
Mahir MAHİROĞULLARI
Ömer UZ
Evren ERKUL
Kenan KEKLİKÇİ
Pages
37–44
DOI
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AI Summary & Key Takeaways

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

Detailed assessment for possible systemic disorders and close follow-up may be helpful for KFS patients

📌 3 Key Takeaways

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Objective & Hypothesis:Klippel-Feil syndrome (KFS) is characterized by a classical triad (short neck, low posterior hair line, limitation of neck movements).
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Key Findings & Data:Between 2000 and 2011, 120 individuals with facial asymmetry and short neck were evaluated.
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Conclusion & Impact:Detailed assessment for possible systemic disorders and close follow-up may be helpful for KFS patients
🔬Design:Review & Systematic Survey
📍Scope:2000 Verileri
⚙️Variables:Domain Parameters

Abstract

Klippel-Feil syndrome (KFS) is characterized by a classical triad (short neck, low posterior hair line, limitation of neck movements). Segmentation problems of cervical vertebra cause the main clinic in patients, and extraskeletal anomalies are also reported. The aim of this study is to review and emphasize common clinical findings of KFS patients. Between 2000 and 2011, 120 individuals with facial asymmetry and short neck were evaluated. Forty-two adult patients with KFS were included in this study. Patients were assessed for associated skeletal and extraskeletal pathologies. There were 41 male (98%) and 1 female (2%) individuals. Of forty-two patients, thirty-one (n=31; 74%) were classified as type I, nine (n=9; 21%) as type II, and two (n=2; 5%) as type III. Classical clinical triad was detected in all patients. Congenital scoliosis has been observed in all patients except one. Sprengel deformity was observed in 10 individuals (24%). Associated other system disorder ratios were 9.5% for urogenital problems, 23.8% for cardiovascular pathologies and 31% for audiological problems. Spinal and other multi-organ pathologies of patients with KFS may lead to serious problems which may eventually need medical treatment. Detailed assessment for possible systemic disorders and close follow-up may be helpful for KFS patients

Özet

Klippel Feil sendromlu erişkinlerdeki muhtelif organ anormalliklerinin farkında mıyız?Klippel-Feil Sendromu (KFS) klasik bir üçleme ile karakterizedir (kısa boyun, düşük arka saç çizgisi, boyun hareketlerinde kısıtlılık). Asıl klinik tabloya servikal vertebranın segmentasyon problemleri neden olurken, iskelet sistemi dışındaki anomaliler de bildirilmiştir. Bu çalışmada KFS'lu hastalarda yaygın görülen klinik bulguların gözden geçirilmesi ve vurgulanması amaçlanmıştır. 2000-2011 yılları arasında yüz asimetrisi olan ve kısa boyunlu 120 kişi değerlendirilmiştir. 42 KFS'lu erişkin bu çalışmaya dahil edilmiştir. Hastalar iskelet sistemi ve iskelet dışı patolojiler açısından incelenmiştir. Hastaların 41'i erkek (%98) ve biri kadındır (%2). 42 hastanın 31'i tip I (%74), 9'u tip II (%21) ve 2'si (%5) tip III olarak sınıflandırılmıştır. Klasik klinik üçlü bulgu hastaların hepsinde saptanmıştır. Biri hariç tüm hastalarda skolyoz saptanmışken, Sprengel deformitesi 10 hastada (%24) gözlenmiştir. Eşlik eden diğer organ patolojilerinin %9,5'i ürogenital sistem, %23,8'i kardiyovasküler sistem ve %31'i işitme patolojileri idi. KFS'lu hastalardaki omurga ve diğer organ patolojileri sonuçta tıbbi tedavi gerektiren ciddi sorunlara yol açabilir. KFS'lu hastalarda olası bir sistemik problemin saptanması amacıyla detaylı bir inceleme veya yakın klinik takip yararlı olabilir

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Cite This Article

ÇAKMAK, S., RODOP, O., MAHİROĞULLARI, M., UZ, Ö., ERKUL, E., KEKLİKÇİ, K. (2016). Klippel Feil sendromlu erişkinlerdeki muhtelif organ anormalliklerinin farkında mıyız?. Gülhane Tıp Dergisi, Cilt: 58 - Sayı: 1, 37–44. https://ajindex.com/articles/197463

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