spondyloepimetaphyseal dysplasia
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Introduction
heterogeneous group of skeletal disorders
Genetics
- associated with defects in MMP13 (type 2, Missouri)
- associated with defects in PAPSS2 (Pakistani type)
- associated with defects in MATN3 (MATN3-related)
Clinical manifestations
- defective growth & modeling of the spine & long bones
- malformations of the vertebrae
Differential diagnosis
- distinguished from spondylometaphyseal dysplasia & spondyloepiphyseal dysplasia by the combined involvement of the epiphyses & metaphyses
- 3 disorders have malformations of the vertebrae in common