Syndromic Piere Robbin Sequence- A Rare Presentation in Association with Multiple Heart Defects and Type III Stickler Syndrome

Indian J Otolaryngol Head Neck Surg. 2024 Feb;76(1):1325-1327. doi: 10.1007/s12070-023-04307-x. Epub 2023 Oct 31.

Abstract

Pierre Robin Sequence (PRS), a rare congenital disorder, is a triad of micrognathia, glossoptosis, and tongue based airway obstruction (TBSO). It may occur as isolated anomaly (iPRS) or as a part of a syndrome (sPRS), like that seen in association with Stickler Syndrome. Approximately 20% of children with PRS have congenital heart diseases. To the best of our knowledge this case of a one-day old infant is the first one to be reported as having two heart defects; patent ductus arteriosus and patent foramen ovale in Pierre Robbin Sequence child.

Keywords: Micrognathia; Patent Foramen Ovale; Pierre Robbin Sequence; Type III Stickler Syndrome.