title: Osteogenesis imperfecta. A study of 160 family members.
abstract: Osteogenesis imperfecta, a genetic disease characterized by blue sclera, fragile bones, and hearing loss, was studied in 160 descendants of a single, affected individual. One hundred twenty family members in four generations were at risk of inheriting the gene for osteogenesis imperfecta. Fifty-six percent (68/120) had blue sclera, and, of this group, 66% had fragile bones, and 47% of those tested had hearing loss. The onset of hearing loss was usually in the second or third decade, and was primarily of the conductive type. The incidence of sensorineural hearing loss was only slightly less than the incidence of conductive hearing loss. To out knowledge, this is the largest reported kindred study of osteogenesis imperfecta. The genetic transmission of this disease as an autosomal dominant was confirmed.
mesh_terms: D000293:Adolescent; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities; D002648:Child; D002675:Child, Preschool; D050723:Fractures, Bone / Q000209:etiology; D034381:Hearing Loss / Q000209:etiology; D006801:Humans; D007223:Infant; D010013:Osteogenesis Imperfecta / Q000235:genetics* / Q000473:pathology; D010375:Pedigree