Miller-Dieker Syndrome: Report of a Case

Miller-Dieker Syndrome is one of reasons of profound neuro-developmental delay with lissencephaly. A contiguous gene deletion in 17p13.3 is documented. It is characterized by microcephaly, bitemporal narrowing, a small nose with anteverted nostrils, a prominent upper lip, micrognathia, low set ears, hypotonia, seizures, brain malformation, lissencephaly and profound mental retardation. We report a two-year-old boy with microcephaly, profound mental retardation, bitemporal narrowing, low set ears and lissencephaly. CGH array documented the disease.