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Pineocytoma in a child with Pallister–Killian syndrome: a case report and review of the literature

  • Lucia De Martino,
  • Carmela Russo,
  • Delfina Bifano,
  • Lucia Quaglietta,
  • Pietro Spennato,
  • Giuseppe Cinalli

摘要

Pallister–Killian syndrome (PKS; OMIM #601803) is a rare genetic disorder typically characterized by developmental delay, seizures, sparse temporal hair, and facial dysmorphisms. PKS is most frequently caused by mosaic supernumerary isochromosome 12p. Here, we report a 27-month-old girl with a prenatal diagnosis of PKS and a histopathological diagnosis of pineocytoma.