Musculoskeletal ImagingTrisomy 8 syndrome
a chromosomal abnormality characterized by three copies of chromosome 8. For a general description, see
trisomy 8.
Typical features in persons with trisomy 8 include a large skull with a prominent bulging forehead, hypotelorism, a broad shallow nose, thick lips, small mandible, short neck, and long and narrow trunk. Multiple joint contractures and clubfoot are also seen. On radiographs typical findings are generalized osteopenia, multiple joint subluxations or dislocations, hypoplastic iliac bones, small patellae, coxa valga, spinal abnormalities and metaphyseal flaring in the tubular bones. In addition, skeletal maturation is delayed.
DR