Osteogenesis Imperfecta Type II: Fetal Magnetic Resonance Imaging Findings

Abstract

We describe the prenatal magnetic resonance imaging (MRI) findings in a 25-week-old fetus with proven osteogenesis imperfecta type II. Fetal MRI findings are correlated with prenatal ultrasonography, conventional x-ray fetography and postpartal findings. Fetal MRI proves to be superior to conventional fetography in the evaluation of the skeletal findings. The high soft tissue resolution, the large field of view and the multiplanar imaging make it possible to study the non-ossified fetal skeleton in detail. Compared to prenatal ultrasonography, fetal MRI gives important additional information about the expected lung functionality by estimating fetal lung volume and signal intensity and rules out possible additional abnormalities of major fetal organs. These parameters may serve as valuable, additional prognostic markers in the prenatal diagnostic work-up.

Radiographic features of osteogenesis imperfecta

“…In case of doubt and when a termination of pregnancy is being considered, low-dose computed tomography (CT) with three-dimensional reconstructions of the whole foetal skeleton can be performed, after 26 weeks of gestation, to yield a correct diagnosis. The role of MRI is limited, except when visualisation of the foetal brain or visceral organs is required to look for associated abnormalities or to assess foetal lung volume [7]. When termination of pregnancy is performed based on the discovery of ultrasound and CT abnormalities, postmortem radiographs are a very useful adjunct to diagnosis, in confirming and specifying foetal bone abnormalities (Fig.…”

Identification and molecular characterization of two novel mutations in COL1A2 in two Chinese families with osteogenesis imperfecta

“…OI can be diagnosed by MRI, prenatal ultrasonography and conventional X-ray fetography (Hsieh et al, 2008;Solopova et al, 2008). However, type I and type IV OI may not manifest or show clinical features that are detectable by MRI, ultrasonography and X-ray fetography before birth (Morgan and Marcus, 2010).…”

“…The molecular pathogenic determinants for type V and VI have not been identified (Basel and Steiner, 2009). Recently, mutations in PPIP, FKBP10 and SERPINH1 were found in patients with severe OI (van Dijk et al, 2009;Alanay et al, 2010;Christiansen et al, 2010).…”

Evaluation of the Child with Short Stature

“…25 Although more firmly established for congenital central nervous system and cardiac anomalies, the role of fetal MRI continues to evolve in the setting of prenatal evaluation of skeletal dysplasias. 26,27 It should also be remembered that ultrasound remains the only recommended imaging in the first trimester. 28 Information from fetal MRI may be considered complementary to that obtained from ultrasound, adding additional findings in about 30% of cases and changing the diagnosis more than 50% of the time when considering all fetal diagnoses.…”