spondylo-megaepiphyseal-metaphyseal dysplasia
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Pathology
Genetics
- associated with defects in NKX3-2
Clinical manifestations
- disproportionate short stature with a short & stiff neck & trunk
- relatively long limbs that may show flexion contractures of the distal joints
- delayed & impaired ossification of the vertebral bodies
- presence of large epiphyseal ossification centers
- wide growth plates in the long tubular bones
- numerous pseudoepiphyses of the short tubular bones in hands & feet