Desbuquois syndrome.
Three patients with short stature, joint laxity, and peculiar pelvic radiology are described. The first case is similar to those described by Desbuquois et al., with deviation of digitis and supernumerary metacarpal bones. The other two children are less severely affected and are compared with others reported in literature. The authors suggest the homogeneity of the Desbuquois syndrome in spite of the variability of expression.
Le Merrer
M
M
U12 Unité de Recherches INSERM sur les Handicaps Génétiques de l'Enfant, Paris, France.
Young
I D
ID
Stanescu
V
V
Maroteaux
P
P
D001842:Bone and Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D002648:Child; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D006225:Hand / Q000000981:diagnostic imaging; D006621:Hip Joint / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D004204:Joint Dislocations / Q000000981:diagnostic imaging / Q000235:genetics*; D007593:Joint Instability / Q000000981:diagnostic imaging / Q000235:genetics*; D007719:Knee Joint / Q000000981:diagnostic imaging; D008297:Male; D010641:Phenotype; D011859:Radiography; D013577:Syndrome