42 top medical experts on axial Spondylometaphyseal dysplasia across 4 countries, including 2 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.
- axial Spondylometaphyseal dysplasia: Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxtatruncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora.
- Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
- Synonyms: Axial SMD, Axial SMD
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