Neurologic aspects of the 9p- syndrome.
The 9p- syndrome is a chromosomal disorder which is easily recognized by its characteristic craniofacial features. Neurologic abnormalities are evident in all reported cases, the most common of which is severe mental retardation. We add another case with unusual features including glaucoma, seizures, and polydactyly, and review the somatic and neurologic features from 41 previously reported cases.
D000015:Abnormalities, Multiple / Q000235:genetics; D001921:Brain / Q000002:abnormalities*; D002869:Chromosome Aberrations / Q000235:genetics*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002882:Chromosomes, Human, Pair 13; D002899:Chromosomes, Human, Pair 9; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009422:Nervous System Diseases / Q000235:genetics*; D014178:Translocation, Genetic