Abstract
We present herein our first experience with a case of thanatophoric dysplasia (type I) that was diagnosed during the second trimester using three- and four-dimensional HDlive ultrasonography. The HDlive rendering mode clearly showed the anatomical features of thanatophoric dysplasia: external malformations and skeletal abnormalities, including extremely short limbs, flattened vertebral bodies, and short horizontal ribs, among others. HDlive can provide valuable, highly realistic images for the differential diagnosis of skeletal dysplasia. It may also play an important complementary role when conventional two- and three-dimensional ultrasonography does not provide sufficient definition.
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The authors have no conflicts of interest to declare.
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All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2008 (5). Informed consent was obtained from the parents of the patient for being included in the case report.
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Inubashiri, E., Kuroki, K., Maeda, N. et al. Three-dimensional and four-dimensional HDlive-rendered images of thanatophoric dysplasia. J Med Ultrasonics 42, 281–285 (2015). https://doi.org/10.1007/s10396-014-0597-x
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DOI: https://doi.org/10.1007/s10396-014-0597-x