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dyssegmental dysplasia
Classification:
1) dyssegmental dysplasia Silverman-Handmaker type; severe, lethal form
2) dyssegmental dysplasia Rolland-desbuquois form; milder form
Epidemiology: rare
Pathology: skeletal dysplasia
Genetics: autosomal recessive
Clinical manifestations:
- anisospondyly
- micromelia
Specific
dyssegmental dysplasia Silverman-Handmaker type (DDSH)
General
skeletal dysplasia
musculoskeletal disease/disorder
References
UniProt :accession P98160