Fundamentals of Pierre Robin Sequence

Pierre Robin sequence (PRS) is classically described as a triad of micrognathia, glossoptosis, and airway obstruction with or without cleft palate. The presence in a newborn of a severely hypoplastic mandible will condition the appearance of respiratory and nutritional difficulties in relation to ptosis or tongue retroposition. A cleft palate, usually affecting the posterior two-thirds of the palate, completes the “sequence” of Pierre Robin. Although this sequence is pathological by itself, it can be found in many other syndromic craniofacial pathologies. The pathogenesis of syndromic and nonsyndromic Pierre Robin sequence cases is now largely unknown, but evidence of genetic alterations such as the alteration of the SOX9 protein, COL2A1 and TGDS mutations is growing. The presence of a small genetically conditioned mandible causes the tongue to move later and vertically, which will secondarily cause a malunion of the palatal processes, developing a cleft palate. Thanks to the diagnosis and multidisciplinary treatment of patients with Pierre Robin sequence, the mortality associated with it has fallen to very low rates today. Many of these patients can be managed with conservative treatments like nasopharyngeal and nasogastric tubes with postural measures, reserving surgical treatments such as lingual suspension and osteogenic distraction for those cases refractory to conservative management. The use of tracheostomy should be today only a resource limited to cases of extreme and urgent respiratory distress but should not be absent in our treatment resources.