Occipitoatlantoaxial junction malformation and early onset senile ankylosing vertebral hyperostosis in a girl with MURCS association

Recent onset of head mobility limitations associated with significant stiffness along the vertebral column were the predominating symptomatology in a girl with MURCS association. Occipitoatlantoaxial junction malformation complex and vertebral hyperostosis have been identified. Three‐dimensional com...

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Veröffentlicht in:American journal of medical genetics. Part A 2009-03, Vol.149A (3), p.470-474
Hauptverfasser: Al Kaissi, Ali, Ben Chehida, Farid, Ben Ghachem, Maher, Grill, Franz, Klaushofer, Klaus
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Sprache:eng
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Zusammenfassung:Recent onset of head mobility limitations associated with significant stiffness along the vertebral column were the predominating symptomatology in a girl with MURCS association. Occipitoatlantoaxial junction malformation complex and vertebral hyperostosis have been identified. Three‐dimensional computerized tomography (3‐DCT) scan showed assimilation of the anterior arch of the atlas causing basilar invagination. She also had significant thoracic vertebral hyperostosis closely resembling senile ankylosing vertebral hyperostosis (Forestier disease). We report on what might be a novel constellation of spine maldevelopment in connection with MURCS association. © 2009 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.32660