Christianson A L, Beighton P
Department of Human Genetics and Developmental Biology, Faculty of Medicine, University of Pretoria, South Africa.
Genet Couns. 1996;7(3):219-25.
Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) is a rare, recessive skeletal dysplasia previously reported almost exclusively in Afrikaans speaking South Africans. The condition has been well documented in infants and children. We report on three neonates with SEMDJL, whose presentation highlighted the difficulties inherent in the clinical diagnosis of this condition. SEMDJL may be more widespread than previously considered, as evidenced by the recent documentation of a Guatemalan child with the condition.
伴有关节松弛的脊椎骨骺发育不良（SEMDJL）是一种罕见的隐性骨骼发育不良，此前几乎仅在说南非荷兰语的南非人中报道过。这种病症在婴儿和儿童中已有充分记录。我们报告了三名患有SEMDJL的新生儿，他们的临床表现突出了该病症临床诊断中存在的固有困难。SEMDJL可能比之前认为的更为普遍，最近有文献记载一名危地马拉儿童患有该病症就是证明。
