Spondyloepiphyseal dysplasia tarda in Turner syndrome.
A girl with short stature is described in whom chromosomal analysis revealed a 45,X/46,XX mosaicism and in whom radiological investigations disclosed the diagnosis of X-linked spondyloepiphyseal dysplasia tarda. This is the first report of the occurrence of X-linked spondyloepiphyseal dysplasia tarda in a child with Turner syndrome.
Massa
G
G
Department of Paediatrics, University Hospital Gasthuisberg, Leuven, Belgium.
Vanderschueren-Lodeweyckx
M
M
D002648:Child; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics*; D010388:Pelvis / Q000000981:diagnostic imaging; D011859:Radiography; D013131:Spine / Q000000981:diagnostic imaging; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics*; D014960:X Chromosome