Investigation of the Rare Association between Bilateral Vocal Cord Abductor Paralysis and Rubinstein-Taybi Syndrome

Document Type : Case Report


1 Department of Obstetrical and Gynaecological Nursing, Manipal College of Nursing, Manipal, India

2 Department of Pediatrics, Kasturba Medical College of Manipal, Manipal, India


Background: Rubinstein-Taybi syndrome is a rare disorder characterized by broad thumbs and great toes, short stature, dysmorphic facial features, eye abnormalities, cryptorchidism, and moderate to severe intellectual disability. Renal, cardiac, and dental anomalies as well as obesity may be associated with the syndrome. The patients may also have behavioral problems. They have a weak laryngeal wall that can easily collapse resulting in swallowing and breathing problems.
Case report: We report a case of an infant with Rubinstein-Taybi syndrome. The present case had typical facial features, broad thumbs and great toes, right corneal opacity, and bilateral vocal cord abductor paralysis. To the best of our knowledge, no study has been conducted on bilateral vocal cord abductor paralysis in Rubinstein Taybi syndrome. In addition, the infant recovered with symptomatic treatment without tracheostomy.
Conclusion: Rubinstein-Taybi syndrome is associated with various congenital anomalies, however further studies are required to investigate the rare association between Rubinstein-Taybi syndrome and bilateral vocal cord abductor paralysis in future cases.


  1. Milani D, Manazoni FMP, Pezzani L, Ajnione P, Grevasini L, Meuni F, et al. Rubinstein-Taybi Syndrome: clinical features, genetic basis, diagnosis and management. Ital J Pediatr. 2015;41:4.
  2. Gyawali BR. Bilateral Abductor Palsy in Neonates. In Rare Diseases. Intech Open; 2021.
  3. Ada M, Isildak H, Saritzali G. Congenital Vocal cord paralysis. J Craniofac Surg. 2010;21(1):273-4
  4. Fergelot P, Van Belzen M, Van Gils J, Afenjar A, Armour CM, Arveiler B, Beets L, Burglen L, Busa T, Collet M, Deforges J. Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused
    by EP300 mutations. Am J Med Genet A. 2016;170(12):3069-82.
  5. Huang FR, Zhang AM, Xu.J, Huang L.A clinical charecteristics and genetic analysis of a case of Rubinstein-Taybi Syndrome with glaucoma. Eur Rev Med Pharmacol Sci. 2021;25:144-54.
  6. Van Maldergem L, Siitonen HA, Jalkh N, Chouery E, De Roy M, Delague V, Muenke M, Jabs EW, Cai J, Wang LL, Plon SE. Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. J Med Genet. 2006;43(2):148-52.
  7. Kovesi T, Porcaro F, Petreschi F, Trozzi M, Bottero S, Cutrera R. Vocal cord paralysis appears to be an acquired lesion in children with repaired esophageal atresia/tracheoesophageal fistula. Int J Pediatr Otorhinolaryngol. 2018;112:45-7.
  8. Daya H, Hosni A, Bejar-Solar I, Evans JN, Bailey CM. Pediatric vocal fold paralysis: a long-term retrospective study. Arch Otolaryngol Head Neck Surg. 2000;126(1):21-5.
  9. Mazzone D, Milana A,Pratico G. Rubinstein-Taybi Syndrome associated with Dandy Walker Cyst. Case report in a newborn. J Perinat Med. 1989;17(5):
  10. Salik I, Winters R. Bilateral Vocal Cord Paralysis. Stat Pearls; 2021.