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Spondyloepimetaphyseal dysplasia with joint laxity

Joint dislocation

Displacement or malalignment of joints.

Total: 1

(per page)

PMID (PMCID)
8669438	FEMALE
	Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): a Brazilian case.
	Pina-Neto JM, Defino HL, Guedes ML, Jorge SM. Am J Med Genet. 1996;61(2):131-3.
	This is a report on a Brazilian patient with spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL; MIM 271640), a rare autosomal recessive skeletal dysplasia characterized by dwarfism, articular hypermobility, progressive intractable spinal malalignment, a typical facies and a propensity to joint dislocation and subluxation.