Article
Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.
Pediatric radiology - 1 Jan 1994
Spranger J, Menger H, Mundlos S, Winterpacht A, Zabel B
Abstract excerpt
We describe two unrelated children with Kniest dysplasia, a severe autosomal dominant form of chondrodysplastic dwarfism associated with cleft palate, progressive arthropathy, myopia and retinal detachment. In the first patient the disorder was caused by a 28 base pair exon 12/intron 12 deletion...
Topics
- Adult
- Collagen
- Female
- Humans
- Infant
- Male
- Middle Aged
- Mosaicism
- Mutation
- Osteochondrodysplasias
- Parents
- Phenotype
- Procollagen