Literature DB >> 19213024

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

Ali Al Kaissi1, Farid Ben Chehida, Maher Ben Ghachem, Franz Grill, Klaus Klaushofer.   

Abstract

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.

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Year:  2009        PMID: 19213024     DOI: 10.1002/ajmg.a.32660

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  6 in total

1.  The aetiology behind torticollis and variable spine defects in patients with Müllerian duct/renal aplasia-cervicothoracic somite dysplasia syndrome: 3D CT scan analysis.

Authors:  Ali Al Kaissi; Rudolf Ganger; Jochen G Hofstaetter; Klaus Klaushofer; Franz Grill
Journal:  Eur Spine J       Date:  2011-05-08       Impact factor: 3.134

2.  Long-term follow-up on MURCS (Müllerian duct, renal, cervical somite dysplasia) association and a review of the literature.

Authors:  Sun Kim; Yeong Seok Lee; Dong Hyun Kim; Aram Yang; Tack Lee; Seun Deuk Hwang; Dae Gyu Kwon; Ji Eun Lee
Journal:  Ann Pediatr Endocrinol Metab       Date:  2019-09-30

3.  Torticollis in Connection with Spine Phenotype.

Authors:  Ali Al Kaissi; Nabil Nassib; Sami Bouchoucha; Mohammad Shboul; Franz Grill; Susanne Gerit Kircher; Polina Ochirova; Sergey Ryabykh
Journal:  Diagnostics (Basel)       Date:  2022-07-09

4.  Skeletal phenotype/genotype in progressive pseudorheumatoid chondrodysplasia.

Authors:  Ali Al Kaissi; Vladimir Kenis; Lamia Ben Jemaa; Hela Sassi; Mohammad Shboul; Franz Grill; Rudolf Ganger; Susanne Gerit Kircher
Journal:  Clin Rheumatol       Date:  2019-10-18       Impact factor: 2.980

5.  MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis.

Authors:  Anna Dabkowska-Huc; Piotr Skalba; Antoni Pyrkosz
Journal:  Case Rep Genet       Date:  2013-02-17

6.  Turning the backbone into an ankylosed concrete-like structure: Case report.

Authors:  Ali Al Kaissi; Farid Ben Chehida; Franz Grill; Rudolf Ganger; Susanne Gerit Kircher
Journal:  Medicine (Baltimore)       Date:  2018-04       Impact factor: 1.889

  6 in total

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