Type II Arnold-Chiari malformation with normal spine in trisomy 18.
A variety of anomalies of the central nervous system are observed in trisomy 18. The present case describes an infant having a type II Arnold-Chiari malformation without spina bifida. One previous case of an Arnold-Chiari malformation was reported in trisomy 18 but that infant also had a lumbar meningomyelocoele. Abnormalities of cerebral gyration, hydrocephalus, and agenesis of the corpus callosum were also found in the present case.
D001139:Arnold-Chiari Malformation / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000473:pathology*; D002902:Chromosomes, Human, 16-18; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D016135:Spinal Dysraphism; D014314:Trisomy