The manifestations and natural history of spondylo‐epi‐metaphyseal dysplasia with joint laxity

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. Copyright © 1984, Wiley Blackwell. All rights reserved