Dyssegmental dysplasia: a case report of a Rolland-Desbuquois type

Abstract

Two different forms of dyssegmental dysplasia, mild and severe, can be distinguished on clinical, radiographic and chondro-osseous morphologic grounds. The milder Rolland-Desbuquois type is frequently characterised by survival beyond the newborn period. The lethal Silverman-Handmaker type has distinctive and more severe findings. In this paper, a rare case of the Rolland-Desbuquois type is presented. The case is unusual because although it was the milder form, the child died on the 10th day of life.

Prenatal sonographic features of dyssegmental dysplasia Rolland‐Desbuquois type

“…Clearly, not all findings are amenable to prenatal sonographic diagnosis or occur in all affected offspring. DD cases with prenatal sonographic findings are presented in Table 1 3–11…”

Reduced Levels of MMP-2 and TIMP-1 in Dyssegmental Dysplasia

“…1C), findings characteristic of dyssegmental dysplasia. Because she was eventually able to walk with the aid of equipment, a diagnosis of the milder Rolland‐Desbuquois form was indicated (2) …”

“…Because she was eventually able to walk with the aid of equipment, a diagnosis of the milder Rolland-Desbuquois form was indicated. (2) With informed consent, the levels of matrix metalloproteinase (MMP)-1, MMP-2, MMP-9, and tissue inhibitor of metalloproteinase (TIMP)-1 and TIMP-2 were measured by corresponding sandwich enzyme immunoassays (3) in umbilical cord blood samples obtained soon after ligature. When compared with levels measured in eight normal female babies, the levels of MMP-2 and TIMP-1 in the affected baby were significantly reduced ( Fig.…”