Smith-McCort dysplasia
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Epidemiology
rare
Pathology
Genetics
- autosomal recessive
- associated with defect in dymeclin gene
Clinical manifestations
- short limbs
- 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)