1993 Volume 86 Issue 7 Pages 943-950
Craniometaphyseal dysplasia is a rare congenital disorder in which marked sclerosis and hypostosis of the craniofacial skeleton are associated with abnormal modeling of the metaphyses of the long bones. The disorder was first reported by Pyle in 1931 as “a case of unusual bone development”. Only a few cases have been reported in the literature. The present paper describes otolaryngological features observed in a case of Pyle's disease. An 8-year-old boy developed symptoms of progressive visual and hearing loss due to bony impingement on the cranial foramen and the Eustachian tube. Radiographic examinations showed marked sclerosis of the base of the skull and underdevelopment of the paranasal sinuses and mastoids. Although otolaryngological manifestations are rare, we need to keep this disease in mind in order to prevent hearing deterioration by surgical intervention at an early stage.