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spondylo-megaepiphyseal-metaphyseal dysplasia
Pathology:
- skeletal dysplasia
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
General
skeletal dysplasia
Database Correlations
OMIM 613330
References
OMIM :accession 613330