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European Journal of Pediatrics

, Volume 126, Issue 3, pp 127–138 | Cite as

X-Linked dysosteosclerosis

Four familial cases
  • I. Pascual-Castroviejo
  • C. Casas-Fernandez
  • V. Lopez-Martin
  • A. Martinez-Bermejo
Article

Abstract

Four Spanish children with clinical and radiological features corresponding to dysosteosclerosis are presented. All the children were male and belonged to the same family. The first known carrier is the maternal grand-mother, who had three daughters by three different fathers who in turn had one or more sons with the disease. The four carriers were normal. Consanguinity did not occur in any case and the disorder was transmitted as a sex-linked recessive condition.

Key words

Dysosteosclerosis X-linked dysosteosclerosis Osteodermoneurologic syndrome Optic nerve atrophy Dwartism Mental retardation 

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References

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Copyright information

© Springer-Verlag 1977

Authors and Affiliations

  • I. Pascual-Castroviejo
    • 1
  • C. Casas-Fernandez
    • 1
  • V. Lopez-Martin
    • 1
  • A. Martinez-Bermejo
    • 1
  1. 1.Clinica Infantil “La Paz”The Service of NeurologyMardrid, 34Spain

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