title: A hypoplastic atlas and long odontoid process in a girl manifesting phenotypic features resembling spondyloepimetaphyseal dysplasia joint laxity syndrome.
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.
authors.affiliation: Ludwig Boltzmann Institute of Osteology, Hanusch Hospital, Vienna, Austria. ali.alkaissi@osteologie.at
authors.forename: Ali
authors.initials: A
authors.lastname: Al Kaissi
authors.forename: Farid Ben
authors.initials: FB
authors.lastname: Chehida
authors.forename: Maher Ben
authors.initials: MB
authors.lastname: Ghachem
authors.forename: Klaus
authors.initials: K
authors.lastname: Klaushofer
authors.forename: Franz
authors.initials: F
authors.lastname: Grill
mesh_terms: D001270:Cervical Atlas / Q000002:abnormalities*; D002648:Child; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007593:Joint Instability / Q000000981:diagnostic imaging* / Q000209:etiology / Q000473:pathology; D009809:Odontoid Process / Q000002:abnormalities*; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000209:etiology / Q000473:pathology; D011859:Radiography; D013577:Syndrome