X-linked dysosteosclerosis. Four familial cases.
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 grandmother, 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.
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008297:Male; D009896:Optic Atrophy / Q000150:complications; D010026:Osteosclerosis / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome