Abstract
We report on a mother and daughter with Marshall syndrome, with the Robin sequence present in the daughter. Results of our efforts to link this syndrome to a defect in type II collagen are reported. We compare and contrast Marshall syndrome with the Stickler syndrome, and propose that enough phenotypic overlap exists to suggest that they are probably allelic expressions of the same locus.
| Original language | English |
|---|---|
| Pages (from-to) | 35-38 |
| Number of pages | 4 |
| Journal | American Journal of Medical Genetics |
| Volume | 41 |
| Issue number | 1 |
| DOIs | |
| State | Published - 1991 |
| Externally published | Yes |
Keywords
- COL2A1
- Marshall syndrome
- Robin sequence
- Stickler syndrome
- collagen
- sensory neural deafness
- type II
- vitreoretinal degeneration