Literature DB >> 18256824

A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome.

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

Abstract

Phenotypic features consistent but not completely diagnostic for spondyloepimetaphyseal dysplasia joint laxity (SEMDJL) were encountered in a 7-year-old-girl. Additional tomographic features of a hypoplastic atlas (assimilation of the posterior arch of the atlas) and unduly long odontoid process were seen. We report what might be a novel type of SEMDJL.

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Mesh：

Year:  2008        PMID： 18256824     DOI： 10.1007/s00256-007-0443-y

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


  19 in total

1.  Basilar impression complicating osteogenesis imperfecta type IV: the clinical and neuroradiological findings in four cases.

Authors:  M Hayes; G Parker; J Ell; D Sillence
Journal:  J Neurol Neurosurg Psychiatry       Date:  1999-03       Impact factor: 10.154

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

Authors:  R S Lachman
Journal:  Pediatr Radiol       Date:  1997-05

3.  PLATYBASIA WITH INVOLVEMENT OF THE CENTRAL NERVOUS SYSTEM.

Authors:  B S Ray
Journal:  Ann Surg       Date:  1942-08       Impact factor: 12.969

4.  Superior odontoid migration in the Klippel-Feil patient.

Authors:  Dino Samartzis; Prakasam Kalluri; Jean Herman; John P Lubicky; Francis H Shen
Journal:  Eur Spine J       Date:  2006-12-15       Impact factor: 3.134

5.  Familial basilar impression.

Authors:  R W Paradis; D S Sax
Journal:  Neurology       Date:  1972-05       Impact factor: 9.910

6.  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

7.  Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL) in three neonates.

Authors:  A L Christianson; P Beighton
Journal:  Genet Couns       Date:  1996

Review 8.  Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL).

Authors:  P Beighton
Journal:  J Med Genet       Date:  1994-02       Impact factor: 6.318

9.  Spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL): presentation in two unrelated patients in the United States.

Authors:  W Smith; H P Ji; W Mouradian; R A Pagon
Journal:  Am J Med Genet       Date:  1999-09-17

10.  Spondylo-epi-metaphyseal dysplasia with joint laxity and severe, progressive kyphoscoliosis.

Authors:  P Beighton; K Kozlowski
Journal:  Skeletal Radiol       Date:  1980       Impact factor: 2.199
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  1 in total

1.  Distinctive tomographic abnormalities of the craniocervical region in a patient with osteogenesis imperfecta type IV B.

Authors:  Ali Al Kaissi; Klaus Klaushofer; Franz Grill
Journal:  Clinics (Sao Paulo)       Date:  2010-06       Impact factor: 2.365
  1 in total

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