Table 2.

Common Physical Findings in Spondylometaphyseal Dysplasia, Corner Fracture Type

Physical Fnding# of Person w/Finding/
# Examined
Short stature19/19
Short lower extremities5/7
Short upper extremities3/3
Short trunk4/6
Scoliosis15/19
Genu varum8/18
Genu valgum5/17
Pectus carinatum6/14
Limited mobility 18/8
Musculoskeletal pain5/6
Vision impairment3/5
Accentuated lumbar lordosis 22/3
1.

Limited mobility was reported secondary to pain and/or limb deformity.

2.

To date, only reported in individuals with COL2A1-SMDCF

From: Spondylometaphyseal Dysplasia, Corner Fracture Type

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