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spondyloepiphyseal dysplasia congenital type (SEMD-STR)
Pathology:
- bone disease
Genetics:
- associated with defects in COL2A1
Clinical manifestations:
- disproportionate short stature from birth
- very short trunk & shortened limbs
- skeletal abnormalities including:
- lordosis
- scoliosis
- flattened vertebrae
- pectus carinatum
- coxa vara
- clubfoot
- abnormal epiphyses or metaphyses
Radiology:
- radiographs show irregular sclerotic changes, described as dappled in the metaphyses of the long bones
General
spondyloepiphyseal dysplasia
Database Correlations
OMIM 184250
References
OMIM :accession 184250