Feature | Sponastrime | SEMD with large joint dislocations10 | Camera et al11 | Verloes et al12 |
Intelligence | Normal | Normal | Severe retardation | Severe retardation |
Short stature | + | + | + | + |
Midface hypoplasia | + | + | + | + |
Saddle nose | + | + | + | + |
Rocker bottom feet | − | − | − | + |
Joint laxity | + | ++ | ? | + |
Hypotonia | + | + | + | +++ |
Large joint dislocations | − | ++ | − | − |
Osteopenia | + | − | + | +++ |
Microcephaly | − | − | + | + |
Wormian bones | − | − | − | + |
Striated metaphyses1-150 | +/++ | + | + | − |
Irregular metaphyseal margins1-150 | + | − | − | − |
Epiphyseal involvement | + | ++ | + | −/+ |
Delayed bone age | + | + | + | + |
Scoliosis | +/+++ | + | − | + |
Characterisic age related vertebral changes1-150 | ++ | − | − | − |
Lumbar lordosis | + | + | + | − |
Reduction in interpedicular distances from L1 to L5 | + | + | − | − |
Gracile metacarpals | − | + | ? | − |
Brachymetacarpy | + | − | ? | + |
Pseudoepiphyses of metacarpals | + | − | − | + |
Long slender phalanges | − | + | ? | − |
MCPP | Up - down variation | ? | ? | Relatively flat |
↵1-150 Major radiological diagnostic features of sponastrime dysplasia.
+ mild; ++ moderate; +++ severe; − absent; ? not mentioned in paper.