Fig. 2.

Stapes ankylosis, teeth abnormalities, and periarticular calcification are observed in association with mental retardation, deafness, ankylosis, and altered bone metabolism. A, Affected individuals showed mild facial dysmorphism with long face, prominent nose, and dentinogenesis imperfecta. B, Enlarged presentation of teeth abnormalities revealed, including yellow stippeling and dentinogenesis imperfecta. C, MRI image of the skull (T2-weighted transverse section) demonstrated a well aerated middle ear cleft, the head of the malleus and the body and long process of the incus. The cochlea was well surrounded by bone. No sign of otosclerosis or skull hyperostosis were found. D, Radiography of the lumbar spine displayed periarticular calcification of the vertebral joints with ankylosis and beaking. E, Radiography of the hand revealed periarticular calcification beginning at the entheses at the age of 18 yr as a typical sign of the syndrome. No mineralized structures within the articular cartilage were detectable. F, No calcification of articular cartilage and ligaments were identified by radiography of the knee from a homozygous individual at the age of 28 yr.