Spondyloepimetaphyseal dysplasia with joint laxity


Skeletal dysplasia

A general term describing features characterized by abnormal development of bones and connective tissues.


合計: 2

                       


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PMID (PMCID)
10482874
 MIXED_SAMPLE Infant
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the United States.
Smith W, Ji HP, Mouradian W, Pagon RA.
Am J Med Genet. 1999;86(3):245-52.
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.
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.