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

Ali Al Kaissi; Farid Ben Chehida; Maher Ben Ghachem; Klaus Klaushofer; Franz Grill

doi:10.1007/s00256-007-0443-y

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

Skeletal Radiol. 2008 May;37(5):469-73. doi: 10.1007/s00256-007-0443-y. Epub 2008 Feb 7.

Authors

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

Affiliation

¹ Ludwig Boltzmann Institute of Osteology, Hanusch Hospital, Vienna, Austria. ali.alkaissi@osteologie.at

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

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.

Publication types

Case Reports

MeSH terms

Cervical Atlas / abnormalities*
Child
Female
Humans
Infant, Newborn
Joint Instability / diagnostic imaging*
Joint Instability / etiology
Joint Instability / pathology
Odontoid Process / abnormalities*
Osteochondrodysplasias / diagnostic imaging*
Osteochondrodysplasias / etiology
Osteochondrodysplasias / pathology
Radiography
Syndrome