Erschienen in:
01.12.2008 | Case Report
Fetal MR imaging of atelosteogenesis type II (AO-II)
verfasst von:
Elka Miller, Susan Blaser, Stephen Miller, Sarah Keating, Megan Thompson, Sheila Unger, Ants Toi, Howard Berger, Karen Chong
Erschienen in:
Pediatric Radiology
|
Ausgabe 12/2008
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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.