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

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 wer...

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Bibliographic Details
Published in:Skeletal radiology 2008-05, Vol.37 (5), p.469-473
Main Authors: Al Kaissi, Ali, Chehida, Farid Ben, Ghachem, Maher Ben, Klaushofer, Klaus, Grill, Franz
Format: Article
Language:English
Subjects:
Biological and medical sciences
Case Report
Cervical Atlas - abnormalities
Child
Female
Humans
Imaging
Infant, Newborn
Investigative techniques, diagnostic techniques (general aspects)
Joint Instability - diagnostic imaging
Joint Instability - etiology
Joint Instability - pathology
Medical sciences
Medicine & Public Health
Nuclear Medicine
Odontoid Process - abnormalities
Orthopedics
Osteoarticular system. Muscles
Osteochondrodysplasias - diagnostic imaging
Osteochondrodysplasias - etiology
Osteochondrodysplasias - pathology
Pathology
Radiodiagnosis. Nmr imagery. Nmr spectrometry
Radiography
Radiology
Syndrome
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Summary: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.
ISSN:0364-2348
1432-2161
DOI:10.1007/s00256-007-0443-y