1. The manifestations and natural history of spondylo-epi-metaphyseal dysplasia with joint laxity
- Author
-
Peter Beighton, G. S. Gericke, K. Kozlowski, and L. Grobler
- Subjects
Adult ,Joint Instability ,Male ,musculoskeletal diseases ,medicine.medical_specialty ,Adolescent ,Dwarfism ,Genes, Recessive ,Osteochondrodysplasias ,Joint laxity ,Autosomal recessive trait ,Genetics ,medicine ,Humans ,Child ,Kyphoscoliosis ,Genetics (clinical) ,Spondyloepimetaphyseal dysplasia ,business.industry ,Spondylo epi metaphyseal dysplasia ,Infant, Newborn ,Syndrome ,Anatomy ,medicine.disease ,Dermatology ,Pedigree ,Natural history ,Phenotype ,Dysplasia ,Child, Preschool ,Female ,business - Abstract
Spondylo-epi-metaphyseal dysplasia with joint laxity (SEMDJL) is characterized by severe dwarfism, articular hypermobility and progressive spinal malalignment. The clinical manifestations of 18 affected persons in 13 families of the Afrikans-speaking community of South Africa have been analysed and it has become evident that survival into adulthood is unusual. SEMDJL is inherited as an autosomal recessive trait.
- Published
- 2008