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The manifestations and natural history of spondylo‐epi‐metaphyseal dysplasia with joint laxity
Author(s) -
Beighton P.,
Gericke G.,
Kozlowski K.,
Grobler L.
Publication year - 1984
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1984.tb01065.x
Subject(s) - natural history , medicine , dwarfism , dysplasia , joint hypermobility , osteochondrodysplasia , anatomy , pathology , genetics , biology , gene
Spondylo‐epi‐metaphyseal dysplasia with joint laxity (SEMDJL) is characterized by severe dwarfism, articular hypermobility and progressive spinal malalignment. The clinical manifestations of 18 affected persons in 13 families of the Afrikans‐speaking community of South Africa have been analysed and it has become evident that survival into adulthood is unusual. SEMDJL is inherited as an autosomal recessive trait.