Fact-sheet: Pallister Hall syndrome


Updated on 02/06/2022 at 3:58 PM

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Definition

Pallister-Hall syndrome is an autosomal dominant malformation syndrome characterized by:

  • a hypothalamic hamartoma (or tuber cinereum hamartoma),
  • pituitary dysfunction,
  • a bifid epiglottis,
  • polydactyly,
  • +/- renal abnormalities and genitourinary malformations.

MRI

Brain MRI: diencephalic hamartoma, classically small in size