Diagnostics and therapy of the Pierre Robin sequence

The Pierre Robin sequence (PRS) describes the combination of mandibular micrognathia and/or retrognathia with glossoptosis resulting in upper airway obstruction. If untreated complications such as failure to thrive, chronic hypoxemia and cor pulmonale may occur. Hence, PRS should be diagnosed early and the expression as well as severity of the breathing disorder assessed in a sleep laboratory. Because non-invasive alternatives have been lacking until recently, surgical interventions, such as glossopexy, wire extension and osteodistraction of the mandible are still widely used in infants. In a validated interdisciplinary non-invasive treatment protocol, a custom-made palatal plate with a velar extension (i.e. pre-epiglottic baton plate) which removes the airway obstruction and supports mandibular growth is used. Treated appropriately, children with isolated PRS show normal development whereas in syndrome-associated PRS the prognosis depends on the underlying diagnosis.