Abstract
Our understanding of many neurodevelopmental disorders has improved owing to high-resolution imaging procedures and more precise genetic techniques. This chapter summarizes selected congenital disorders of the brain and spinal cord, such as neural tube defects, Chiari malformation, syringomyelia, holoprosencephaly, and agenesis of the corpus callosum. Also included are genetic and developmental disorders such as autism, Down syndrome, fragile X syndrome, and Rett syndrome. Several neurocutaneous disorders presented in detail include tuberous sclerosis complex, neurofibromatosis types 1 and 2, Sturge-Weber syndrome, and von Hippel-Lindau disease. Disease-modifying therapy is available for tuberous sclerosis, neurofibromatosis type 1, and possibly fragile X and Rett syndromes. For other conditions, improved identification and treatment of disease complications has greatly improved longevity and quality of life.
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