In 1963, Miller reported two siblings with a specific pattern of malformations in which lissencephaly was a key feature. Later in 1969, Dieker et al. described a similar condition. Jones et al. in 1980 further characterized the phenotype and suggested the designation Miller-Dieker syndrome to distinguish it from other lissencephaly syndromes. At present, Miller-Dieker syndrome is known to be a contiguous gene disorder caused by haploinsufficiency of a gene or genes having a major role in the development of the brain and the face (Alvarado et al. 1993).
KeywordsPreimplantation Genetic Diagnosis Autosomal Recessive Disorder Deletion Syndrome Congenital Muscular Dystrophy Profound Mental Retardation
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