XXXX . Report of a non-familial case.

@entity1 @entity79 @entity2473 @entity690 @entity2420 @entity12908 @entity5766
The case of a 24-year-old @entity1 with @entity12908 is reported. No similar disease occurred in his family. Inverted and bullous tips of fingers were noted at age 9 and protruded occipital bone at age 10. He complained on left facial @entity2473 and facial tics for 1 year. Examination revealed a @entity1 of short stature, with a brachycephalic skull and @entity5766 . Radiologically there was an extreme @entity2420 with the basal angle of 180 degrees, demineralized spinal vertebrae, and @entity690 . Both bone and CT scans demonstrated the abnormalities of the skull clearly. The basilar artery ran almost horizontally on angiography. He gradually deteriorated neurologically with bulbar, pyramidal and cerebellar signs and symptoms. Review of the literature revealed at least ten non-familial and nine familial cases of this disorder. It is considered that this syndrome is a genetically determined generalized @entity79 .
