Fetal MR imaging of atelosteogenesis type II (AO-II).
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.
Miller
Elka
E
Department of Diagnostic Imaging, Hospital for Sick Children, 555 University Ave., Toronto M5G 1X8, Canada. millerel@hhsc.ca
Blaser
Susan
S
Miller
Stephen
S
Keating
Sarah
S
Thompson
Megan
M
Unger
Sheila
S
Toi
Ants
A
Berger
Howard
H
Chong
Karen
K
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