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 were seen. We report what might be a novel type of SEMDJL.
Al Kaissi
Ali
A
Ludwig Boltzmann Institute of Osteology, Hanusch Hospital, Vienna, Austria. ali.alkaissi@osteologie.at
Chehida
Farid Ben
FB
Ghachem
Maher Ben
MB
Klaushofer
Klaus
K
Grill
Franz
F
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