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]