• Kyphoscoliosis Type EDS Description

• Kyphoscoliosis Type EDS Links

• Medical Journal Abstracts on Kyphoscoliosis Type EDS

Kyphoscoliosis Type EDS Description

Generalized joint laxity and severe muscle hypotonia at birth are seen in this type of EDS. Muscular hypotonia can be very pronounced and leads to delayed gross motor development. Individuals present with scoliosis at birth. The scoliosis is progressive. The phenotype is most often severe, frequently resulting in the loss of ambulation in the second or third decade. Scleral fragility may lead to rupture of the ocular globe after minor trauma.

Tissue fragility including atrophic scars and easy bruising may be seen. Spontaneous arterial rupture can easily occur. Other findings may include marfanoid habitus, microcornea, and radiologically considerable osteopenia.

Kyphoscoliosis Type EDS is the result of a deficient lysyl hydroxylase (PLOD). Inheritance: Autosomal recessive.

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Kyphoscoliosis Type EDS Links

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Medical Journal Abstracts on Kyphoscoliosis Type EDS

• Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature.

• Lysine hydroxylation of collagen in a fibroblast cell culture system.

• Surgical management of the spinal deformity in Ehlers-Danlos syndrome type VI.

• The kyphoscoliotic type of Ehlers-Danlos syndrome (type VI): differential effects on the hydroxylation of lysine in collagens I and II revealed by analysis of cross-linked telopeptides from urine.

• Joint and skin laxity with Dandy-Walker malformation and contractures: a distinct recessive syndrome?

• Adenoviral gene transfer restores lysyl hydroxylase activity in type VI Ehlers-Danlos syndrome.

• PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: implications for the pathology of Rieger syndrome.

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