Spondyloepimetaphyseal dysplasia, Strudwick type
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Sign InDescription
The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature, pectus carinatum, and scoliosis, as well as dappled metaphyses (summary by Tiller et al., 1995).
Mode of Inheritance
- Autosomal dominant inheritance
VARIANTS
3