title: Fetal MR imaging of atelosteogenesis type II (AO-II).
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.
authors: Department of Diagnostic Imaging, Hospital for Sick Children, 555 University Ave., Toronto M5G 1X8, Canada. millerel@hhsc.ca
authors: Elka
authors: E
authors: Miller
authors: Susan
authors: S
authors: Blaser
authors: Stephen
authors: S
authors: Miller
authors: Sarah
authors: S
authors: Keating
authors: Megan
authors: M
authors: Thompson
authors: Sheila
authors: S
authors: Unger
authors: Ants
authors: A
authors: Toi
authors: Howard
authors: H
authors: Berger
authors: Karen
authors: K
authors: Chong
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D010009:Osteochondrodysplasias / Q000473:pathology*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D050497:Stillbirth