[Endosteal hyperostosis with dominant transmission. Description of 8 cases in 3 generations of the same nuclear family].
The authors report on 8 patients with the dominant type of endosteal hyperostosis (Worth's disease), found in the same kindred over 3 generations. Three were males, five females, from 5 to 49 years of age. Major radiographic features were an increased density of bones of the skull and spine, with thickening of the diaphyseal cortex of tubular bones, without any change in remodeling. Seven patients were almost asymptomatic. A decompressive craniotomy had been performed in one, who showed a compression of the 2nd, 5th and 8th cranial nerves. Blood alkaline phosphatase was normal. The bone density increases with age, but in spite of this the clinical course if milder than in recessive type of generalized cortical hyperostosis (Van Buchem's disease, as reported in the 35 cases of endosteal hyperostosis (dominant type) previously described.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D006958:Hyperostosis, Cortical, Congenital / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010375:Pedigree
Iperostosi endostale a trasmissione dominate. Descrisione di 8 casi in 3 generazioni dello stesso nucleo familiare.