Head |
brachycephaly; thickened calvaria |
normocephaly |
Midface |
flat; retracted |
dish-shaped; flat |
Nose |
small, short saddle nose with flat bridge |
long nose with prominent nasal bridge |
Ocular hyperterlorism/ other ocular findings |
yes/high myopia; glaucome; retinal detachment; no astigmatism |
no/high myopia; vitreoretinal degeneration; astigmatism |
Hearing loss |
frequent; sensorineural |
mild |
Stature |
short and stocky |
normal or tall and thin |
Skeletal abnormalities |
spondyloepiphyseal abnormalities |
osteochondrodysplasia; spondyloepiphyseal dysplasia |
Joints |
hypoextensible |
hypoextensible; arthropathy with degenerative arthritis |
Inheritance |
autosomal dominant |
autosomal dominant |
COL21A1 mutations |
no |
yes |