Dyggve-Melchior-Clausen syndrome
Last reviewed 01/2018
This dysplastic syndrome is characterised by:
- short stature
- short trunk
- barrel chest
- accentuated lumbar lordosis
- restricted joint mobility
- waddling gait
- in some families this condition has been associated with mental retardation.
X-ray reveals this to be a spondyloepiphyseal dysplasia. The vertebral bodies are flat and anteriorly beaked, there is a fine degree of ossification above the iliac crest, and irregularities of the small carpal and metacarpal bones.