Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in three neonates.
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.
Department of Human Genetics and Developmental Biology, Faculty of Medicine, University of Pretoria, South Africa.
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Christianson
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Beighton
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics; D001842:Bone and Bones / Q000000981:diagnostic imaging; D006801:Humans; D007231:Infant, Newborn; D007593:Joint Instability / Q000000981:diagnostic imaging / Q000235:genetics*; D008297:Male; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011859:Radiography; D013019:South Africa; D013577:Syndrome