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Spondylometaepiphyseal Dysplasia - Short Limb - Abnormal Calcification
Spondyloepimetaphyseal Dysplasia Type Short Limb - Abnormal Calcification 

Presentation

Musculoskeletal

  • Platyspondyly

    Platyspondyly MedGen UID: 335010 •Concept ID: C1844704 • Finding A flattened vertebral body shape with reduced distance between the vertebral endplates. [ncbi.nlm.nih.gov]

Face, Head & Neck

  • Frontal Bossing

    Frontal bossing MedGen UID: 67453 •Concept ID: C0221354 • Congenital Abnormality Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. [ncbi.nlm.nih.gov]

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