New associations of primary ciliary dyskinesia syndrome

Pediatr Pulmonol. 1993 Jul;16(1):9-12. doi: 10.1002/ppul.1950160103.


Ten of 32 patients with primary ciliary dyskinesia syndrome (PCDS) also had other conditions. Five esophageal problems, 4 congenital heart disease, 2 scoliosis, and 4 miscellaneous and probably coincidental conditions were discovered. Additionally, a patient in this series, who has a normal heart, had a brother who died after surgery for complex congenital heart disease. In retrospect, he too probably had PCDS. The association of severe esophageal and cardiac disease with primary ciliary dyskinesia has not been described before. The diagnosis of PCDS may carry more implications than previously recognized.

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Ciliary Motility Disorders / complications
  • Ciliary Motility Disorders / diagnosis*
  • Esophageal Diseases / etiology*
  • Female
  • Heart Diseases / etiology*
  • Humans
  • Infant
  • Male
  • Respiratory Tract Diseases / etiology*