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Fetal segmental spinal dysgenesis and unusual segmental agenesis of the anterior spinal artery

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Abstract

Segmental spinal dysgenesis (SSD) is a rare congenital spinal abnormality characterized by segmental dysgenesis or agenesis of the thoracolumbar or lumbar spine, congenital kyphosis, and abnormal configuration of the underlying spinal cord. A unique feature of SSD is that the vertebrae are present above and below the defect, and there is often a lower cord segment in the caudal spinal canal. We report a fetal MRI case of SSD with postmortem and neuropathological correlations. Our report confirms already published findings including the presence of a neurenteric cyst but is the first to document anterior spinal artery segmental agenesis in SSD.

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Authors and Affiliations

  1. Department of Medical Imaging, Children’s Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, Ontario, K1H 8L1, Canada

    Melissa Valdez Quintana & Elka Miller

  2. Department of Pathology and Laboratory Medicine, Children’s Hospital of Eastern Ontario, University of Ottawa, 401 Smyth Road, Ottawa, Ontario, K1H 8L1, Canada

    Jean Michaud & Dina El Demellawy

  3. Department of Obstetrics, Gynecology and Newborn Care, The Ottawa Hospital, University of Ottawa, 501 Smyth Road, Ottawa, Ontario, K1H 8L6, Canada

    Darine El-Chaar

  4. Department of Genetics, Children’s Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, Ontario, K1H 8L1, Canada

    Sarah M. Nikkel

Authors
  1. Melissa Valdez Quintana
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  2. Jean Michaud
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  3. Darine El-Chaar
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  4. Dina El Demellawy
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  5. Sarah M. Nikkel
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  6. Elka Miller
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Correspondence to Melissa Valdez Quintana.

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Valdez Quintana, M., Michaud, J., El-Chaar, D. et al. Fetal segmental spinal dysgenesis and unusual segmental agenesis of the anterior spinal artery. Childs Nerv Syst 32, 1537–1541 (2016). https://doi.org/10.1007/s00381-016-3054-x

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  • DOI: https://doi.org/10.1007/s00381-016-3054-x

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