Autosomal dominant inheritance of Caffey-Silverman disease. Hyperostosis corticalis infantum.
A case of Caffey-Silverman disease is described in an infant aged 4.5 months. The case was erroneously diagnosed in the initial stage of the disease as osteitis. The correct diagnosis was established after radiological examination of the skeleton. The pathological lesions involved the mandible, both clavicles, all ribs, left shoulder blade, both radial bones and left ulna. Follow-up radiological examination after 12 months demonstrated nearly complete disappearance of the previously observed skeletal changes. At the age of 18 months the condition of the child was good and its development was normal. Radiological changes indicating past Caffey-Silverman disease were disclosed in the mother and maternal grandmother of the child. This indicates an autosomal dominant type of inheritance of the disease.
D001842:Bone and Bones / Q000000981:diagnostic imaging; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D003937:Diagnosis, Differential; D005799:Genes, Dominant; D006801:Humans; D006958:Hyperostosis, Cortical, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D007223:Infant; D008297:Male; D011859:Radiography