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Smith-McCort dysplasia
Epidemiology: rare
Pathology:
- osteochondrodysplasia
Genetics:
1) autosomal recessive
2) associated with defect in dymeclin gene
Clinical manifestations:
1) short limbs
2) barrel-shaped chest
Radiology:
- X-rays show
- platyspondyly
- generalized abnormalities of epiphyses & metaphyses
- distinctive lacy appearance of the iliac crest
Differential diagnosis:
- Dyggve-Melchior-Clausen syndrome (not clear how they differ)
General
skeletal dysplasia
Database Correlations
OMIM 607326
References
OMIM :accession 607326