Expansile skeletal hyperphosphatasia: a new familial metabolic bone disease.

@article{Whyte2000ExpansileSH,
  title={Expansile skeletal hyperphosphatasia: a new familial metabolic bone disease.},
  author={Michael P Whyte and Barbara G Mills and William R. Reinus and Michelle N. Podgornik and Garson David Roodman and Francis H. Gannon and Martha Eddy and W Howard Mcalister},
  journal={Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research},
  year={2000},
  volume={15 12},
  pages={2330-44}
}
We describe a new familial metabolic bone disease characterized by expanding hyperostotic long bones, early onset deafness, premature tooth loss, and episodic hypercalcemia. The condition affects a mother and daughter studied at the age of 36 years and 11 years, respectively. Both individuals lost all hearing in early childhood and suffered premature… CONTINUE READING