[Cleido-cranial dysostosis with malformation of the cervico-occipital junction].
A 66 years old man with cleido-cranial dysostosis suffered from a progressive ataxic gait for 45 years. Physical examination discovered cerebellar and pyramidal signs and altered deep sensibility in lower limbs. Roentgenograms showed skeletal dysostosis and a severe malformation of the cervico-occipital junction. The disease was transmitted with a dominant autosomic inheritance. The patient died from cardiac and respiratory distress. Post mortem examination confirmed radiologic anomalies: basilar invagination with a low-situated brain stem. The paucity of neurological complications of cleido-cranial dysostosis is emphasized. This is apparently the first reported case with clinical signs of cervico-occipital malformation.
D000368:Aged; D002574:Cervical Vertebrae / Q000002:abnormalities*; D002973:Cleidocranial Dysplasia / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D012886:Skull / Q000002:abnormalities*
Maladie de Pierre Marie et Sainton avec malformation de la charnière cervico-occipitale.