Pallister-Killian syndrome (PKS): systemic features

Evidence-based neurology checklist on pallister-killian syndrome (pks): systemic features: Gastrointestinal features Congenital diaphragmatic hernia Exomphalos Anal atresia Skeletal anomalies Autonomic features Congenital heart defects Dermatological features

Gastrointestinal features

  • Congenital diaphragmatic hernia
  • Exomphalos
  • Anal atresia

Skeletal anomalies

Autonomic features

Congenital heart defects

Dermatological features

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.

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