Catathrenia in Pitt-Hopkins syndrome associated with 18q interstitial deletion

Pediatr Int. 2018 May;60(5):479-481. doi: 10.1111/ped.13514. Epub 2018 Apr 6.
No abstract available

Keywords: 18q interstitial deletion; Pitt-Hopkins syndrome; catathrenia; nocturnal groaning.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosome Deletion
  • Chromosome Disorders / complications
  • Chromosome Disorders / diagnosis*
  • Chromosome Disorders / genetics
  • Chromosomes, Human, Pair 18 / genetics
  • Facies
  • Female
  • Humans
  • Hyperventilation / complications
  • Hyperventilation / diagnosis*
  • Hyperventilation / genetics
  • Intellectual Disability / complications
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics
  • Parasomnias / diagnosis
  • Parasomnias / etiology*
  • Sleep Initiation and Maintenance Disorders / diagnosis
  • Sleep Initiation and Maintenance Disorders / etiology*

Supplementary concepts

  • Chromosome 18 deletion syndrome
  • Pitt-Hopkins syndrome