Table 1
Clinical manifestations of the Marshall and Stickler syndromes [5] (with modifications).
| Findings | Marshall Syndrome | Stickler Syndrome |
|---|---|---|
| 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 |
Figure 1
Frontal and profile view of proband.
Figure 2
Frontal and profile view of proband’s father.
Figure 3
Pedigree of the studied family.
Figure 4
The neighboring sequences 22 bp upstream and 22 bp downstream of the G>A substitution (c.3474+1G>A) at intron 44 of the COL11A1 gene.