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Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): Clinical and radiological findings in a guatemalan patient

✍ 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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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

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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

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## Abstract We describe a 5‐year‐old boy and a 33‐year‐old woman with spondyloepimetaphyseal dysplasia with joint laxity leptodactylic form (spondyloepimetaphyseal dysplasia with multiple dislocations) (MIM 6003546), and two 12‐year‐old girls with the disorder who were previously reported as exampl