Document Type : Case Report
Department of Obstetrical and Gynaecological Nursing, Manipal College of Nursing, Manipal, India
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.