Article
A distinct form of spondyloepimetaphyseal dysplasia with multiple dislocations.
Journal of medical genetics - 1 Jul 1998
Hall C M, Elçioglu N H, Shaw D G
Abstract excerpt
Three unrelated patients with identical radiological features are presented. Hypotonia was noted at birth and one patient was diagnosed as having congenital fibre type disproportion in the neonatal period. Later muscle biopsies, however, were entirely normal. All patients, now in their teens and...
Topics
- Adolescent
- Adult
- Child
- Female
- Humans
- Infant, Newborn
- Joint Dislocations
- Knee Joint
- Male
- Osteochondrodysplasias
- Phenotype
- Radiography