Literature DB >> 19050869

Atlanto-axial segmentation defects and os odontoideum in two male siblings with opsismodysplasia.

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

Abstract

We report two siblings aged 11 and 7 years, respectively, who presented with the clinical and radiographic features of opsismodysplasia (non-lethal type). 3D computed tomography scans of the craniocervical region revealed a split atlas and os odontoideum in both siblings. To the best of our knowledge, this is the first clinical report detailing craniocervical malformations in two siblings with opsismodysplasia.

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Mesh：

Year:  2008        PMID： 19050869     DOI： 10.1007/s00256-008-0623-4

Source DB:  PubMed          Journal:  Skeletal Radiol        ISSN： 0364-2348            Impact factor:   2.199


  12 in total

1.  Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases.

Authors:  V Cormier-Daire; A L Delezoide; N Philip; P Marcorelles; K Casas; Y Hillion; L Faivre; D L Rimoin; A Munnich; P Maroteaux; M Le Merrer
Journal:  J Med Genet       Date:  2003-03       Impact factor: 6.318

Review 2.  The cervical spine in the skeletal dysplasias and associated disorders.

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4.  A unique chondrodysplasia secondary to a defect in chondroosseous transformation.

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Journal:  Birth Defects Orig Artic Ser       Date:  1977

5.  Basilar Impression (Platybasia): A Bizarre Developmental Anomaly of the Occipital Bone and Upper Cervical Spine with Striking and Misleading Neurologic Manifestations.

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Journal:  Yale J Biol Med       Date:  1939-05

6.  Os odontoideum: an acquired lesion.

Authors:  J W Fielding; P P Griffin
Journal:  J Bone Joint Surg Am       Date:  1974-01       Impact factor: 5.284

7.  Atlanto-axial dislocations.

Authors:  A D Greenberg
Journal:  Brain       Date:  1968       Impact factor: 13.501

8.  The timing and sequence of events in the development of the human vertebral column during the embryonic period proper.

Authors:  R O'Rahilly; D B Meyer
Journal:  Anat Embryol (Berl)       Date:  1979-10

9.  Persistent torticollis, facial asymmetry, grooved tongue, and dolicho-odontoid process in connection with atlas malformation complex in three family subjects.

Authors:  Ali Al Kaissi; Farid Ben Chehida; Hassan Gharbi; Maher Ben Ghachem; Franz Grill; Franz Varga; Klaus Klaushofer
Journal:  Eur Spine J       Date:  2007-01-24       Impact factor: 3.134

10.  Spinal disorders of dwarfism. Review of the literature and report of eighty cases.

Authors:  D Bethem; R B Winter; L Lutter; J H Moe; D S Bradford; J E Lonstein; L O Langer
Journal:  J Bone Joint Surg Am       Date:  1981-12       Impact factor: 5.284
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  9 in total

Review 1.  Acquired os odontoideum: a case report and literature review.

Authors:  Shenglin Wang; Chao Wang
Journal:  Childs Nerv Syst       Date:  2011-12-02       Impact factor: 1.475

2.  The options of C2 fixation for os odontoideum: a radiographic study for the C2 pedicle and lamina anatomy.

Authors:  Xian-zhong Meng; Jia-xin Xu
Journal:  Eur Spine J       Date:  2011-07-03       Impact factor: 3.134

Review 3.  INPPL1 gene mutations in opsismodysplasia.

Authors:  Anaïs Fradet; Jamie Fitzgerald
Journal:  J Hum Genet       Date:  2016-10-06       Impact factor: 3.172

4.  Opsismodysplasia.

Authors:  Leslie Edward S Lewis; Y Ramesh Bhat; Prashant Naik; Kanchan Sethi; K M Girisha
Journal:  Indian J Pediatr       Date:  2010-03-19       Impact factor: 1.967

5.  A Rare Presentation of Os Odontoideum with Multiple Vertebral Fusion in Type III Klippel-Feil Syndrome (KFS) - A Case Report.

Authors:  Shabana Begum; Tanushree Roy; Tanwi Ghosal Sen; Indrajit Gupta
Journal:  J Clin Diagn Res       Date:  2014-09-20

6.  Opsismodysplasia: Phosphate Wasting Osteodystrophy Responds to Bisphosphonate Therapy.

Authors:  Ansab Khwaja; Shawn E Parnell; Kathryn Ness; Viviana Bompadre; Klane K White
Journal:  Front Pediatr       Date:  2015-06-22       Impact factor: 3.418

7.  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

8.  Prenatal-onset INPPL1-related skeletal dysplasia in two unrelated families: Diagnosis and prediction of lethality.

Authors:  Iman Sabri Abumansour; Radiah Mahmoud Iskandarani; Alaa Edrees; Farrukh Javed; Fadwah Taher; Ghaidaa Farouk Hakeem
Journal:  Clin Case Rep       Date:  2021-05-28

9.  Os odontoideum in identical twins: Comparative gene expression analysis.

Authors:  David Straus; Shunbin Xu; Vincent C Traynelis
Journal:  Surg Neurol Int       Date:  2014-03-20
  9 in total

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