Expanding the Clinical and ieuroradioiogical Phenotype of 6q27 MIcrodeletion: Olfactory Bulb Aplasia and Anosmia

摘要

Subtelomeric deletions of chromosome 6q may result in a syndrome with braininalformations, comprising hydrocephalus and hypoplasia of the corpus callosum.Aplasia of the olfactory bulbs (OB) or anosmia has not been described in this syndrome. We describe a 3-year-old girl and a 25-year-old man with sub-telomere 6q deletions. Both patients had aplastic OB and hydrocephalus. Subtelomeric 6q deletions might be underdiagnosed as anosmia can be the only symptom.