Ehlers‐Danlos syndrome and type III collagen abnormalities: a variable clinical

@article{Hamel1998EhlersDanlosSA,
  title={Ehlers‐Danlos syndrome and type III collagen abnormalities: a variable clinical},
  author={B C J Hamel and Gerard Pals and C H Engels and Elt van den Akker and G H Boers and P.W.J. van Dongen and P M Steijlen},
  journal={Clinical Genetics},
  year={1998},
  volume={53}
}
Ehlers‐Danlos syndrome (EDS) comprises ten types. EDS IV is the most severe type because of its often lethal complications, such as arterial rupture. EDS IV is caused by an abnormality of collagen type III as a result of mutations in the corresponding gene COL3A1. A collagen type III abnormality is also seen in patients with EDS without the classical severe EDS IV phenotype. We report on 11 patients with type III collagen abnormality and normal collagen V in whom clinically EDS II, III, and IV… 
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Chapter 105 – Heritable Diseases of Connective Tissue
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References

SHOWING 1-10 OF 31 REFERENCES
The Ehlers-Danlos syndromes.
The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of inherited connective tissue disorders characterized clinically by skin fragility, skin hyperextensibility, joint hypermobility, and
Cerebrovascular disease in Ehlers-Danlos syndrome type IV.
TLDR
Two patients with cerebrovascular complications of Ehlers-Danlos syndrome type IV with spontaneous internal carotid artery dissection and a 46-year-old woman with aneurysmal subarachnoid hemorrhage were both deficient in collagen type III, analyzed in cultured skin fibroblasts.
Obstetrical problems in patients with Ehlers-Danlos syndrome type IV; a case report.
A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen.
TLDR
Mutations of type III collagen can cause either EDS IV or EDS III, and two affected family members had virtually normal skin and so more closely resembled the phenotype of articular hypermobility syndrome.
Ehlers-Danlos syndrome and pregnancy: association of type IV disease with maternal death.
TLDR
A maternal death with type IV is reported, and the literature for obstetric complications of the syndrome by type is reviewed, finding recommendations for managing pregnancies complicated by EDS.
Ehlers‐Danlos syndrome type I: a clinical and ultrastructural study of a family with reduced amounts of collagen type III
Ehlers‐Danlos syndrome (EDS) type I was diagnosed in an 18‐year‐old girl on the basis of marked skin hyperextensibility with generalized loose‐jointedness, pigmcnted paper‐tissue scars, and a
Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II.
TLDR
These findings confirm the causal role of collagen V in at least a subgroup of EDS I, prove that E DS I and II are allelic conditions, and represent a, so far, unique example of a human collagen disorder caused by substitution of a highly conserved cysteine residue in the C-propeptide domain of a fibrillar collagen.
Ehlers-Danlos syndrome has varied molecular mechanisms.
TLDR
Ehlers-Danlos syndrome is a group of variable clinical entities which share a propensity to skin fragility, joint laxity, and ligamentous fragility or shortening and the systemic implications, complications, and associations of EDS were largely unrecognised for many years although the association of congenital hip dislocations was described early.
COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture
TLDR
Twenty mutations of the collagen III gene (COL3AI) are analysed by hislological, protein and molecular DNA techniques, most of which cause premature arterial fragility, thin skin and variants of vascular Ehlers‐Danlos syndrome.
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