Miller–Dieker syndrome

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Reason: Removing

In the Miller - Dieker syndrome ( first described in 1963 by JQ Miller and 1969 by H. Dieker ) also Miller - Dieker lissencephaly or 17 p- syndrome is a chromosomal abnormality with microdeletions in the terminal short arm of chromosome 17 ( p13 gene locus. 3).

Clinical signs

  • Etc. lissencephaly, often more cerebral malformations such as corpus callosum agenesis (bar deficiency)
  • Facial abnormalities such as microcephaly, prominent forehead
  • Cardiac defect
  • Cryptorchidism
  • Growth retardation
Deletion (genetics)
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