Brain Dev 2022 Apr 22. Epub 2022 Apr 22.
Research Institute of the McGill University Medical Centre, Montreal, Quebec, Canada; Division of Neurology, Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada; Department of Neurology and Neurosurgery, McGill University Health Centre, Montreal, Quebec, Canada. Electronic address:
Background: Chromosome 18q duplications are associated with a range of phenotypes often similar to complete trisomy 18, variably including poor growth, feeding difficulties, congenital malformations and dysmorphic facial features. Although 18q duplication patients may have seizures and developmental impairment, brain MRI typically shows only variable degrees of cerebral atrophy.
Patient: We present a boy with a 52. Read More