Spondylo-epimetaphyseal dysplasia with joint laxity and severe kyphoscoliosis in an Italian girl.
A case of spondylo-epimetaphyseal dysplasia with joint laxity (SEMDJL) in an Italian girl is reported. This condition is mainly observed in the Afrikaans population of South Africa with an ancestral founder believed to be localized in West Germany. This case might support a link with the European origin of SEMDJL.
Ricci
R
R
Paediatric Clinic, Catholic University, Rome, Italy.
Aulisa
L
L
Antuzzi
D
D
Serra
F
F
Segni
G
G
Kozlowski
K
K
D002675:Child, Preschool; D004838:Epiphyses; D005260:Female; D006801:Humans; D007593:Joint Instability / Q000150:complications*; D007738:Kyphosis / Q000150:complications* / Q000000981:diagnostic imaging; D011859:Radiography; D012600:Scoliosis / Q000150:complications* / Q000000981:diagnostic imaging; D013122:Spinal Diseases / Q000150:complications / Q000151:congenital* / Q000000981:diagnostic imaging