Camurati-Engelmann’s skeletal dysplasia (CESD) is characterized by progressive diaphyseal hyperostosis of cortices and in base of skull, leg pains, waddling gait, asthenic appearance and muscle weakness most evident in low limb girdle. Hyperostosis may progress to deafness, headaches and optic nerve atrophy due to compression. Adolescence with puberty may be delayed. Disorder is autosomal dominant inherited and shows a wide variance even intrafamilial in expression of symptoms. The mutation for type I was identified in gene TGFB1 on 19q13.1. Authors report a family with occurrence of CESD in at least three generations in which the youngest patients were diagnosed as mitochondrial or autosomal recessive muscular dystrophy. Only detection of R218C mutation in TGFB1 gene allows to estimate of correct clinical prognosis for family members.

        Key words: hyperostosis, Camurati-Engelmann’s skeletal dysplasia type I, muscle weakness, delayed puberty, hearing loss, optic nerve compression, autosomal dominant inheritance, R218C mutation in gene TGFB1