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Fetal MR imaging of Kniest dysplasia

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Abstract

We present a case of Kniest dysplasia, a rare form of the type II collagenopathies, with prenatal MRI. Sonography revealed only short limbs in the fetus. Fetal MRI findings included enlarged hyaline cartilaginous structures with abnormally high T2 signal intensity, delayed ossification of the pubic and ischial bones, and platyspondyly. By delineating the cartilaginous abnormalities, fetal MRI can contribute to the prenatal diagnosis of chondrodysplasias.

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Authors and Affiliations

  1. Faculty of Medicine, Department of Radiology, Uludag University, Gorukle, Turkey

    Zeynep Yazici

  2. Department of Radiology, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Ave., Cincinnati, OH, 45229, USA

    Beth M. Kline-Fath & Tal Laor

  3. Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA

    Bradley T. Tinkle

Authors
  1. Zeynep Yazici
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  2. Beth M. Kline-Fath
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  3. Tal Laor
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  4. Bradley T. Tinkle
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Corresponding author

Correspondence to Beth M. Kline-Fath.

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Yazici, Z., Kline-Fath, B.M., Laor, T. et al. Fetal MR imaging of Kniest dysplasia. Pediatr Radiol 40, 348–352 (2010). https://doi.org/10.1007/s00247-009-1444-x

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  • DOI: https://doi.org/10.1007/s00247-009-1444-x

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