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J Med Genet 31:976-977 doi:10.1136/jmg.31.12.976
  • Research Article

Sclerosteosis in a Spanish male: first report in a person of Mediterranean origin.

  1. M Bueno,
  2. G Oliván,
  3. A Jiménez,
  4. J M Garagorri,
  5. A Sarría,
  6. A L Bueno,
  7. M Bueno, Jr,
  8. F J Ramos
  1. Departmento de Traumatología, Facultad de Medicina, Hospital Clínico Universitario, Lozano Blesa, Universidad de Zaragoza, Spain.

      Abstract

      We report the first observation of sclerosteosis in Spain. To the best of our knowledge, this is the first case of sclerosteosis in a person of Mediterranean origin with no known Dutch ancestors. He has the characteristic phenotype of the disease with right facial nerve palsy and syndactyly and the typical radiological features, including generalised bone sclerosis and cortical widening of the tubular bones.