MEDLINE Journals

    Fetal MR imaging of atelosteogenesis type II (AO-II).

    Authors
    Miller E, Blaser S, Miller S, et al. 
    Source
    Pediatr Radiol 2008 Dec; 38(12) :1345-9.
    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.

    Mesh
    Abnormalities, Multiple
    Adult
    Female
    Fetal Diseases
    Humans
    Magnetic Resonance Imaging
    Osteochondrodysplasias
    Pregnancy
    Prenatal Diagnosis
    Stillbirth
    Language

    eng

    Pub Type(s)
    Case Reports Journal Article
    PubMed ID

    18716767

    Content Manager
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