Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
Fetal MR imaging of atelosteogenesis type II (AO-II).
Publication types: Case Reports ; Journal Article Publication Status: ppublish
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.
Abnormalities, Multiple/pathology, Adult, Female, Fetal Diseases/pathology, Humans, Magnetic Resonance Imaging/methods, Osteochondrodysplasias/pathology, Pregnancy, Prenatal Diagnosis/methods, Stillbirth
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