Table 3.
Skeletal Features for Subjects without a Clinical Diagnosis of SPONASTRIME Dysplasia
| Subject ID | 6 | 7-1 | 7-2 | 8 |
|---|---|---|---|---|
| Diagnosis | spondylometaphyseal dysplasia | spondylometaphyseal dysplasia | spondylometaphyseal dysplasia | spondylometaphyseal dysplasia |
| Sex | f | f | m | f |
| Age at Last Follow-up | 12 years | 10 years, 9 months | 9 years, 9 months | 5 years, 11 months |
| Height (Z score) | −10.6 | −1.5 | −1.6 | −6.5 |
| Weight (Z score) | −5.1 | −0.2 | 0.8 | −5.3 |
| FOC (Z score) | −8.0 | 0.1 | −1.0 | −4.3 |
| Disproportionately Short Stature | no | no | no | yes |
| Orthopedic Abnormalities |
long, tapering fingers and proximally inserted thumbs; long and overlapping toes | pes planus | none | rhizomelia and mesomelia; 5th finger clinodactyly |
| Radiographic Features | ||||
| Metaphyses | irregular | mild metaphyseal irregularities with mild striations | mild widening and irregularities with mild striations | broad, flared, and irregular metaphyses with mild striations |
| Epiphyses | normal | normal | normal | normal |
| Spine | platyspondyly | biconcave vertebrae | biconcave vertebrae | platyspondyly |
| Other Skeletal Findings | none | short, wide femoral necks | short, wide femoral necks | squaring of iliac wings; coxa valga |
Abbreviations are as follows: f = female, m = male, and FOC = frontal occipital circumference.