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Journals / Türkiye Çocuk Hastalıkları Dergisi / 2026 / Cilt: 8 Sayı: 2

Ehlers-Danlos Syndrome Type VI: A Case Report

Ehler-Danlos Sendromu Tip VI: Olgu Sunumu

Mehmet Canpolat(Erciyes University, Faculty of Medicine, Department of Child Health and Diseases, Kayseri, Turkey)
Nagihan Erdoğ Şahin(Erciyes University, Faculty of Medicine, Department of Child Health and Diseases, Kayseri, Turkey)
Fatih Kardaş(Erciyes University, Faculty of Medicine, Department of Child Health and Diseases, Kayseri, Turkey)
Mehmet Köse(Erciyes University, Faculty of Medicine, Department of Child Health and Diseases, Kayseri, Turkey)
Hakan Gümüş(Erciyes University, Faculty of Medicine, Department of Child Health and Diseases, Kayseri, Turkey)
Hüseyin Per(Erciyes University, Faculty of Medicine, Department of Child Health and Diseases, Kayseri, Turkey)
Sefer Kumandaş(Erciyes University, Faculty of Medicine, Department of Child Health and Diseases, Kayseri, Turkey)
Pages
101–104
Publication Date
2014-08-01
DOI
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AI Summary & Key Takeaways

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

Herein, we describe a 7-year-old female with the kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI) who was admitted with complaints of curvature of the spine

📌 3 Key Takeaways

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Objective & Hypothesis:The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS), type VI, is a rare autosomal recessive connective tissue disorder characterized at birth by severe muscular hypotonia, kyphoscoliosis which is progressive and severe, marked joint hypermobility and luxations and severe skin hyperelasticity.
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Key Findings & Data:It is characterized by a deficiency of collagen lysyl hydroxylase due to mutations in procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1 or lysyl hydroxylase 1).
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Conclusion & Impact:Herein, we describe a 7-year-old female with the kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI) who was admitted with complaints of curvature of the spine
🔬Design:Makale
📍Scope:Comprehensive Sample
⚙️Variables:Çocuk · Ehlers-Danlos sendromu · Hipotoni

Abstract

The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS), type VI, is a rare autosomal recessive connective tissue disorder characterized at birth by severe muscular hypotonia, kyphoscoliosis which is progressive and severe, marked joint hypermobility and luxations and severe skin hyperelasticity. It is characterized by a deficiency of collagen lysyl hydroxylase due to mutations in procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1 or lysyl hydroxylase 1). The ratio of urinary total LP to HP in patients with EDS VI is high as compared with normal controls, and is diagnostic for this disease. Herein, we describe a 7-year-old female with the kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI) who was admitted with complaints of curvature of the spine

Özet

Kifoskolyotik tip Ehlers-Danlos sendromu (EDS), tip VI, doğumdan itibaren varolan ciddi muskuler hipotoni, progresif ve ciddi kifoskolyoz, belirgin eklem hipermobilitesi ve luksasyon ve ciddi deri hiperelastikiyeti ile karakterize nadir otozomal resesif bir bağ doku hastalığıdır. Prokolajen-lizin-2-oksoglutarat 5-dioksijenaz 1(PLOD1 veya lizil hidroksilaz 1) gen mutasyonu sonucu bu hastalarda kolajen lizil hidroksilaz enzim eksikliği ile görülmektedir. Normal sağlıklı kontroller ile karşılaştırıldıklarında, idrarda artmış total lizil pridinoline/hidroksi pridinoline oranları yüksektir ve bu durum hastalık için tanı koydurucudur. Bu vakada omurga eğriliği şikayeti ile başvuran ve kisosfolyotik tip Ehlers-Danlos sendromu tanısı alan 7 yaşında kız sunuldu.

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Cite This Article

Canpolat, M., Şahin, N. E., Kardaş, F., Köse, M., Gümüş, H., Per, H., Kumandaş, S. (2014). Ehlers-Danlos Syndrome Type VI: A Case Report. Türkiye Çocuk Hastalıkları Dergisi, Cilt: 8 Sayı: 2, 101–104. https://ajindex.com/articles/1435882

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References (12)

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