[Combination of rare anomalies of the cervical spine and peripheral skeleton].
This paper presents a case report on a 59-year old patient of small stature with moderate mental retardation, strabismus and several rare skeletal anomalies. We found an os odontoideum, a dysontogenetic 3fold fusion of cervical vertebrae, multiple double-sided wrist bone dysplasias and brachytelephalangical digiti pedis I, but no anomalies of the heart or genitals. Clinical signs, biochemical parameters and results of x-ray and ultrasonic examination are demonstrated in this complex malformation syndrome that combines different anomalies known from other syndromes.
Loreck
D
D
Institut für Röntgendiagnostik, Universitätsklinikum Charité, Humboldt-Universität zu Berlin.
Buttgereit
F
F
Burmester
G R
GR
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging*; D002348:Carpal Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D002574:Cervical Vertebrae / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000000981:diagnostic imaging; D007403:Intervertebral Disc / Q000002:abnormalities / Q000000981:diagnostic imaging; D008663:Metacarpus / Q000002:abnormalities / Q000000981:diagnostic imaging; D008875:Middle Aged; D009809:Odontoid Process / Q000002:abnormalities / Q000000981:diagnostic imaging; D011859:Radiography; D011884:Radius / Q000002:abnormalities / Q000000981:diagnostic imaging; D014034:Toes / Q000002:abnormalities / Q000000981:diagnostic imaging