Spondylometaphyseal dysplasia, A4 type

Spondylometaphyseal dysplasia, A4 type is a rare primary bone dysplasia disorder characterized by disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity.

Micromelia

The presence of abnormally small extremities.


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PMID (PMCID)