Laryngeal malformation in Richieri-Costa Pereira syndrome: new findings

Am J Med Genet A. 2012 Aug;158A(8):1967-70. doi: 10.1002/ajmg.a.35421. Epub 2012 Jun 18.


Laryngeal structural anomalies were described in 13 cases of Richieri-Costa Pereira syndrome, and four previously reported cases were reviewed. The 17 individuals examined had the typical laryngeal anomalies and vocal disorders previously described. The new findings are the laryngeal microweb observed in three cases and arytenoid anteriorization movement observed in 14 cases.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Clubfoot / pathology*
  • Female
  • Hand Deformities, Congenital / pathology*
  • Humans
  • Infant
  • Larynx / abnormalities*
  • Male
  • Pierre Robin Syndrome / pathology*
  • Young Adult

Supplementary concepts

  • Richieri Costa Pereira syndrome