Shwachman-Diamond syndrome: report from an international conference.

@article{Rothbaum2002ShwachmanDiamondSR,
  title={Shwachman-Diamond syndrome: report from an international conference.},
  author={Robert J. Rothbaum and Jean Perrault and Adrianna Vlachos and Marco Cipolli and Blanche P Alter and Susan H Burroughs and Peter Durie and Mohamed T Elghetany and Richard D Grand and Van S. Hubbard and Johanna Rommens and Thomas Rossi},
  journal={The Journal of pediatrics},
  year={2002},
  volume={141 2},
  pages={266-70}
}
the previously described features of SDS and added emphasis to the chondrodysplastic skeletal anomalies, including metaphyseal dysostosis and rib abnormalities. Although metaphyseal changes are generalized in other chondrodysplastic disorders, the changes are more localized in SDS, and the hips and knees appear to be more severely affected. The propensity… CONTINUE READING