Pallister-Killian syndrome (PKS): systemic features

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Pallister-Killian syndrome (PKS): systemic features. Congenital diaphragmatic hernia, Exomphalos, Anal atresia. Fully referenced neurology checklist.

Gastrointestinal features

  • Congenital diaphragmatic hernia
  • Exomphalos
  • Anal atresia

Skeletal anomalies

Locked: subscribe to see this section.

Autonomic features

Locked: subscribe to see this section.

Congenital heart defects

Locked: subscribe to see this section.

Dermatological features

Locked: subscribe to see this section.

References

  1. Izumi K, Krantz ID. Pallister-Killian syndrome. Am J Med Genet C Semin Med Genet 2014; 166C:406-413.
  2. Blyth M, Maloney V, Beal S, et al. Pallister-Killian syndrome: a study of 22 British patients. J Med Genet 2015; 52:454-464.

Related checklists

Loading...