Department of Diagnostic Imaging, Hospital for Sick Children, 555 University Ave., Toronto M5G 1X8, Canada. firstname.lastname@example.org
SourcePediatr Radiol 2008 Dec; 38(12)
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.
MeshAbnormalities, MultipleAdultFemaleFetal DiseasesHumansMagnetic Resonance ImagingOsteochondrodysplasiasPregnancyPrenatal DiagnosisStillbirth
Case Reports Journal Article