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BMJ Publishing Group, Journal of Medical Genetics, 12(31), p. 976-977, 1994

DOI: 10.1136/jmg.31.12.976

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

Journal article published in 1994 by M. Bueno, G. Oliván, A. Jiménez, J. M. Garagorri, A. Sarría, A. L. Bueno, Bueno Al, F. J. Ramos ORCID
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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.