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Occipitoatlantoaxial junction malformation and early onset senile ankylosing vertebral hyperostosis in a girl with MURCS association
Author(s) -
Al Kaissi Ali,
Ben Chehida Farid,
Ben Ghachem Maher,
Grill Franz,
Klaushofer Klaus
Publication year - 2009
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32660
Subject(s) - hyperostosis , medicine , anatomy , maldevelopment , vertebral column , basilar invagination , surgery , decompression
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.