Le Merrer M, Young I D, Stanescu V, Maroteaux P
U12 Unité de Recherches INSERM sur les Handicaps Génétiques de l'Enfant, Paris, France.
Eur J Pediatr. 1991 Sep;150(11):793-6. doi: 10.1007/BF02026714.
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.
描述了3例身材矮小、关节松弛且骨盆X线表现特殊的患者。第1例与Desbuquois等人描述的病例相似,有手指畸形和额外的掌骨。另外两名儿童病情较轻,并与文献中报道的其他病例进行了比较。作者认为尽管Desbuquois综合征的表现存在差异,但仍具有同质性。