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Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: A clinical report and review of the literature

Authors

  • Canan Aygun,

    1. Faculty of Medicine, Department of Pediatrics, Neonatalogy Division, Ondokuz Mayis University, Samsun, Turkey
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    • Associate Professor in Neonatalogy.

  • Fatma Cakmak Celik,

    Corresponding author
    1. Faculty of Medicine, Department of Pediatrics, Neonatalogy Division, Ondokuz Mayis University, Samsun, Turkey
    • Faculty of Medicine, Neonatal Intensive Care Unit, Ondokuz Mayis University, Kurupelit, Samsun, Turkey.
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    • Fellow in Neonatalogy.

  • Mehmet Selim Nural,

    1. Faculty of Medicine, Radiology Department, Ondokuz Mayis University, Samsun, Turkey
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    • Associate Professor in Radiology.

  • Emine Azak,

    1. Faculty of Medicine, Department of Pediatrics, Pediatric Cardiology Division, Ondokuz Mayis University, Samsun, Turkey
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    • Fellow in Pediatric Cardiology.

  • Şukru Kucukoduk,

    1. Faculty of Medicine, Department of Pediatrics, Neonatalogy Division, Ondokuz Mayis University, Samsun, Turkey
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    • Professor in Neonatalogy.

  • Gonul Ogur,

    1. Faculty of Medicine, Department of Pediatrics, Pediatric Genetic Division, Ondokuz Mayis University, Samsun, Turkey
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    • Professor in Pediatric Genetics.

  • Lutfi Incesu

    1. Faculty of Medicine, Radiology Department, Ondokuz Mayis University, Samsun, Turkey
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    • Professor in Radiology.


  • How to Cite this Article: Aygun C, Celik FC, Nural MS, Azak E, Kucukoduk Ş, Ogur G, Incesu L. 2012. Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: A clinical report and review of the literature. Am J Med Genet Part A. 158A:1400–1405.

Abstract

We report on a patient with Sedaghatian type spondylometaphyseal dysplasia (SSMD) who presented with metaphyseal dysplasia, congenital atrioventricular block, simplified gyral pattern, hypogenesis of corpus callosum, and severe cerebellar hypoplasia. We want to emphasize that in this rare congenital lethal skeletal dysplasia with unknown etiology, central nervous system malformations might be a major component of the disorder and should be evaluated in detail to possibly uncover the underlying pathophysiology. © 2012 Wiley Periodicals, Inc.

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