Neurologic aspects of the 9p- syndrome

Pediatr Neurol. 1985 Jan-Feb;1(1):57-9. doi: 10.1016/0887-8994(85)90012-8.


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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Brain / abnormalities*
  • Chromosome Aberrations / genetics*
  • Chromosome Deletion*
  • Chromosome Disorders
  • Chromosomes, Human, Pair 13
  • Chromosomes, Human, Pair 9*
  • Female
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Nervous System Diseases / genetics*
  • Translocation, Genetic