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1.

Spondyloepimetaphyseal dysplasia, Strudwick type

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). [from OMIM]

MedGen UID:
147134
Concept ID:
C0700635
Disease or Syndrome; Finding
2.

Metaphyseal dappling

The presence of spots or rounded patches of abnormally increased density of metaphyseal bone. [from HPO]

MedGen UID:
866562
Concept ID:
C4020907
Finding

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