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Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): A Brazilian case

✍ Scribed by Pina-Neto, João M.; Defino, Helton L. A.; Guedes, Marizilda L.; Jorge, Salim M.

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
20 KB
Volume
61
Category
Article
ISSN
0148-7299

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✦ Synopsis

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 joint dislocation and subluxation. The condition has been described only in 20 children of Afrikaans-speaking parents in South Africa. This is the first report of a non-Afrikaans patient with this genetic entity.

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