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Multiple congenital skull fractures as a presentation of Ehlers–Danlos syndrome type VIIC

Authors

  • Omer Bar-Yosef,

    Corresponding author
    1. Department of Neonatology, Tel Hashomer affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    2. Chaim Sheba Medical Center, Tel Hashomer affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    • Department of Neonatology The Chaim Sheba Medical Center Ramat-Gan 52621, Israel.
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  • Sylvie Polak-Charcon,

    1. Department of Pathology, Tel Hashomer affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    2. Chaim Sheba Medical Center, Tel Hashomer affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
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  • Chen Hoffman,

    1. Department of Radiology, Tel Hashomer affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    2. Chaim Sheba Medical Center, Tel Hashomer affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
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  • Zeev P. Feldman,

    1. Department of Pediatric Neurosurgery, Tel Hashomer affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    2. Chaim Sheba Medical Center, Tel Hashomer affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
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  • Moshe Frydman,

    1. Danek Gertner Institute of Human Genetics, Tel Hashomer affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    2. Chaim Sheba Medical Center, Tel Hashomer affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
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  • Jacob Kuint

    1. Department of Neonatology, Tel Hashomer affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    2. Chaim Sheba Medical Center, Tel Hashomer affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
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  • How to cite this article: Bar-Yosef O, Polak-Charcon S, Hoffman C, Feldman ZP, Frydman M, Kuint J. 2008. Multiple congenital skull fractures as a presentation of Ehlers–Danlos syndrome type VIIC. Am J Med Genet Part A 146A:3054–3057.

Abstract

We describe a newborn infant with multiple congenital skull fractures and intracranial hemorrhage. He also had multiple skin folds suggesting a connective tissue abnormality. Electron microscopy of the skin biopsy showed collagen abnormalities with a “hieroglyphic appearance.” The analysis of the synthesis of collagen in the cultured dermal fibroblasts demonstrated an accumulation of procollagen I. Molecular analysis found a nonsense mutation Q225X in ADAMTS2 gene, which encodes procollagen I N-terminal proteinase. All these findings confirmed the diagnosis of Ehlers–Danlos syndrome type VIIC (MIM 225410). Family studies suggested a founder effect in Ashkenazi Jews originating from Belarus. Prenatal diagnosis in the subsequent pregnancy reassured the parents that the fetus was an unaffected carrier. © 2008 Wiley-Liss, Inc.

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