The manifestations and natural history of spondylo‐epi‐metaphyseal dysplasia with joint laxity
P Beighton, G Gericke, K Kozlowski… - Clinical genetics, 1984 - Wiley Online Library
P Beighton, G Gericke, K Kozlowski, L Grobler
Clinical genetics, 1984•Wiley Online LibrarySpondylo‐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.
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.
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.
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