This is a report on a Brazilian patient with spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL; MIM 271640), a rare autoso-ma1 recessive skeletal dysplasia characterized by dwarfism, articular hypermobility, progressive intractable spinal malalignment, a typical facies and a propensity to j
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): Clinical and radiological findings in a guatemalan patient
β Scribed by Bradburn, Joyce M. ;Hall, Bryan D.
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 391 KB
- Volume
- 59
- Category
- Article
- ISSN
- 0148-7299
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π SIMILAR VOLUMES
This is a report of two North American patients with spondyloepimetaphyseal dysplasia with joint laxity, an uncommon autosomal recessive skeletal dysplasia rarely reported outside of South Africa. Patients with SEMDJL have vertebral abnormalities and ligamentous laxity that results in spinal misalig
## Abstract We describe a 5βyearβold boy and a 33βyearβold woman with spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form (spondyloepimetaphyseal dysplasia with multiple dislocations) (MIM 6003546), and two 12βyearβold girls with the disorder who were previously reported as exampl