Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC.

@article{BarYosef2008MultipleCS,
  title={Multiple congenital skull fractures as a presentation of Ehlers-Danlos syndrome type VIIC.},
  author={Omer Bar-Yosef and Sylvie Polak-Charcon and C Hoffman and Zeev P Feldman and Moshe Frydman and Jacob Kuint},
  journal={American journal of medical genetics. Part A},
  year={2008},
  volume={146A 23},
  pages={3054-7}
}
We describe a newborn infant with multiple congenital skull fractures and intracranial hemorrhage. He also had multiple skin folds suggesting a connective tissue abnormality. Electron microscopy of the skin biopsy showed collagen abnormalities with a "hieroglyphic appearance." The analysis of the synthesis of collagen in the cultured dermal fibroblasts demonstrated an accumulation of procollagen I. Molecular analysis found a nonsense mutation Q225X in ADAMTS2 gene, which encodes procollagen I N… CONTINUE READING
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The natural history, including orofacial features of three patients with EhlersDanlos syndrome, dermatosparaxis type (EDS type VIIC)

  • F Malfait, P De Coster, +6 authors A. De Paepe
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