A case of dyskeratosis congenita with Chiari 1 malformation, absence of inferior vena cava, webbed neck, and low posterior hair neck.

@article{akmak2008ACO,
  title={A case of dyskeratosis congenita with Chiari 1 malformation, absence of inferior vena cava, webbed neck, and low posterior hair neck.},
  author={Seray K{\"u}lc{\"u} Çakmak and M{\"u}zeyyen G{\"o}n{\"u}l and Arzu Kiliç and Ulker G{\"u}l and Oğuzhan Koçak and Murat Demiriz},
  journal={International journal of dermatology},
  year={2008},
  volume={47 4},
  pages={377-9}
}
Dyskeratosis congenita (DC) is a rare inherited disorder that is usually seen in males, consisting of the triad of leukoplakia of the mucous membranes, nail dystrophy, and skin pigmentation. We present a case of DC associated with esophageal stricture, Chiari 1 malformation, absence of inferior vena cava, webbed neck, and low posterior hair neck. A 22-year… CONTINUE READING