Published December 2008
| Version v1
Journal article
Fetal MR imaging of atelosteogenesis type II (AO-II)
Creators
- 1. Hospital for Sick Children, Department of Diagnostic Imaging, Toronto (Canada)
- 2. Mount Sinai Hospital, Department of Pathology, Toronto (Canada)
- 3. University of Freiburg, Institute for Human Genetics and Center for Pediatrics and Adolescent Medicine, Freiburg (Germany)
- 4. Mount Sinai Hospital, Department of Medical Imaging, Toronto (Canada)
- 5. St. Michael's Hospital, Department of Obstetrics and Gynecology, Toronto (Canada)
- 6. Mount Sinai Hospital, The Prenatal Diagnosis and Medical Genetics Program, Toronto (Canada)
Description
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. (orig.)
Availability note (English)
Available from: http://dx.doi.org/10.1007/s00247-008-0974-yAdditional details
Identifiers
Publishing Information
- Journal Title
- Pediatric Radiology
- Journal Volume
- 38
- Journal Issue
- 12
- Journal Page Range
- p. 1345-1349
- ISSN
- 0301-0449
- CODEN
- PDRYA5
INIS
- Country of Publication
- Germany
- Country of Input or Organization
- Germany
- INIS RN
- 40000278
- Subject category
- S62: RADIOLOGY AND NUCLEAR MEDICINE;
- Descriptors DEI
- BONE TISSUES; DIAGNOSIS; GROWTH; IMAGES; NMR IMAGING
- Descriptors DEC
- ANIMAL TISSUES; BODY; CONNECTIVE TISSUE; DIAGNOSTIC TECHNIQUES