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X-Linked dysosteosclerosis (1977)

Pascual-Castroviejo, I. ; Casas-Fernandez, C. ; Lopez-Martin, V. ; [et al.]

Springer

European journal of pediatrics 126 (1977), S. 127-138

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ISSN: 1432-1076

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

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: 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.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00442194

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