A mild variant of Desbuquois dysplasia

On the basis of three newly observed cases (a pair of siblings and a sporad ic case) and one previously reported case, we describe the clinical and rad iological phenotype of a skeletal dysplasia resembling Desbuquois dysplasia . The skeletal alterations in the present disorder, including generalized o steopenia, mild modification of the vertebral endplates, epiphyseal flatten ing of the long bones, broad proximal femora with a spur-like projection of the lesser trochanters (a monkey wrench appearance of the proximal femoral , and advanced carpal skeletal age, are almost identical to those of Desbuq uois dysplasia. However, postnatal growth failure and minor spondylo-articu lar problems in the present disorder contrast with the conspicuous prenatal growth failure and severe spondylo-articular deformities of Desbuquois dys plasia. Short stature in the present disorder does not reach the degree of Desbuquois dysplasia. Molecular investigation of one patient excluded abnor malities of the diastrophic dysplasia sulphate transporter gene. Conclusion The combination of skeletal alterations identical to those of De sbuquois dysplasia with milder short stature and spondylo-articular problem s in the present patients suggests the nosological proposal of "a mild vari ant of Desbuquois dysplasia"