[Cleido-cranial dysostosis with malformation of the cervico-occipital junction]. / Maladie de Pierre Marie et Sainton avec malformation de la charnière cervico-occipitale.

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.