Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene.

@article{Szab2006AorticAD,
  title={Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene.},
  author={Zsolt Szab{\'o} and Marc W. Crepeau and Anna L Mitchell and Mark J Stephan and Robert A Puntel and K Yin Loke and Richard C Kirk and Zsolt Urb{\'a}n},
  journal={Journal of medical genetics},
  year={2006},
  volume={43 3},
  pages={255-8}
}
BACKGROUND Cutis laxa is an acquired or inherited condition characterized by redundant, pendulous and inelastic skin. Autosomal dominant cutis laxa has been described as a benign disease with minor systemic involvement. OBJECTIVE To report a family with autosomal dominant cutis laxa and a young girl with sporadic cutis laxa, both with variable expression of an aortic aneurysmal phenotype ranging from mild dilatation to severe aneurysm or aortic rupture. METHODS AND RESULTS Histological… CONTINUE READING

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