Article
New autosomal dominant form of spondyloepiphyseal dysplasia presenting with atlanto-axial instability.
American journal of medical genetics - 1 Oct 1994
Reardon W, Hall C M, Shaw D G, Kendall B, Hayward R, Winter R M
Abstract excerpt
We present a family with a radiologically distinct new form of autosomal dominant spondyloepiphyseal dysplasia, presenting with cervical instability and attendant neurological compromise and emphasise the radiological characteristics which delineate this condition. Cervical vertebral abnormalitie...
Topics
- Atlanto-Axial Joint
- Child
- Child, Preschool
- Chromosome Aberrations
- Chromosome Disorders
- Family Health
- Female
- Genes, Dominant
- Humans
- Infant, Newborn
- Joint Instability
- Male
- Osteochondrodysplasias
- Pedigree
- Phenotype
- Pregnancy
- Radiography