Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13.

@article{Giunta2008SpondylocheiroDF,
  title={Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13.},
  author={Cecilia Giunta and Nursel H. Elçioglu and Beate Albrecht and Georg Eich and C{\'e}line Chambaz and Andreas R Janecke and Heather N. Yeowell and Maryann Weis and David R Eyre and Marius Kraenzlin and Beat Steinmann},
  journal={American journal of human genetics},
  year={2008},
  volume={82 6},
  pages={1290-305}
}
We present clinical, radiological, biochemical, and genetic findings on six patients from two consanguineous families that show EDS-like features and radiological findings of a mild skeletal dysplasia. The EDS-like findings comprise hyperelastic, thin, and bruisable skin, hypermobility of the small joints with a tendency to contractures, protuberant eyes with bluish sclerae, hands with finely wrinkled palms, atrophy of the thenar muscles, and tapering fingers. The skeletal dysplasia comprises… CONTINUE READING

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