[Spondylo-epiphyseal dysplasia. Description of a family]
- PMID: 3375124
[Spondylo-epiphyseal dysplasia. Description of a family]
Abstract
The authors describe a family, father and two sisters, suffering from spondylo-epiphyseal dysplasia. The disease is an autosomal dominant; genetic counseling depends on an exact diagnosis. The two sisters show some atypical features, which confirm the disease heterogeneity.