Fetal MR imaging of atelosteogenesis type II (AO-II)
Elka Miller1, Susan Blaser, Stephen Miller
1Department of Diagnostic Imaging, Hospital for Sick Children, 555 University Ave., Toronto M5G 1X8, Canada. millerel@hhsc.ca
Pediatric Radiology
|August 22, 2008
Abstract:
The diastrophic dysplasia family of osteochondrodysplasias comprises a spectrum of skeletal diseases characterized by abnormal growth and remodelling of cartilage and bone. They are caused by mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene. Different defects in this gene product give rise to the variety of phenotypes based on the level of residual transport capacity. We reported a case of a fetus with this spectrum, evaluated and diagnosed with fetal MRI.
