Novel mutation in the COL11A1 gene causing Marshall-Stickler syndrome in three generations of a Bulgarian family
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27 jul 2021
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Categoría del artículo: Case Report
Publicado en línea: 27 jul 2021
Páginas: 95 - 98
DOI: https://doi.org/10.2478/bjmg-2021-0001
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© 2021 Mladenova M, Todorov T, Grozdanova L, Mitev V, Todorova A, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
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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 |
| no | yes |