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Miller-Dieker Syndrome

Living reference work entry

Abstract

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).

Keywords

Preimplantation Genetic Diagnosis Autosomal Recessive Disorder Deletion Syndrome Congenital Muscular Dystrophy Profound Mental Retardation 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

References

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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  1. 1.Medical Genetics, Shriners Hospitals for ChildrenShreveportUSA
  2. 2.Perinatal and Clinical Genetics, Department of PediatricsLSU Health Sciences CenterShreveportUSA

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