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

Keywords: Child, Ehlers-Danlos syndrome, Hypotonia, Kyphoscoliosis

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How to cite

1.
Canpolat M, Şahin NE, Kardaş F, Canpolat M, Gümüş H, Per H, et al. Ehlers-Danlos Syndrome Type VI: A Case Report. Turk J Pediatr Dis [Internet]. 2014 Aug. 1 [cited 2025 May 25];8(2):101-4. Available from: https://turkjpediatrdis.org/article/view/275