This syndrome is characterized by retrognathia or micrognathia, glossoptosis, and a soft palate cleft. The presumed inciting factor is mandibular micrognathia before 9 weeks in utero causing glossoptosis (posterior-inferior displacement of the tongue) which mechanically impairs the union of the palatal shelves. This forms the classic U-shaped or high-arched cleft, which is incomplete in approximately 50% of these patients.

This anatomy results in airway obstruction that is magnified during inspiration, relaxation, and sleep. Crying or straining can often keep the airway open. Because of these respiratory problems and increased energy expenditure, feeding can become exceedingly difficult. If left untreated, this vicious cycle can lead to hypoxemia, exhaustion, failure to thrive, cerebral impairments, cardiac failure (cor pulmonale), and ultimately death.

The Pierre Robin sequence is a rare disease with a birth incidence ranging from 1:8,500 to 1:30,000. This wide range derives from variable clinical presentations, particularly in those with mild symptoms that can go unrecognized, as well as inconsistent diagnostic and reporting in studies of heterogeneous populations. In 38% of cases, it occurs in other normal individuals.

References

• Cladis F, Kumar A, Grunwaldt L, Otteson T, Ford M, Losee JE. Pierre Robin sequence: a perioperative review. Anesth Analg. 2014;119:400-412.
• Giudice A, Barone S, Belhous K, et al. Pierre Robin sequence: A comprehensive narrative review of the literature over time. J Stomatol Oral Maxillofac Surg. 2018;119:419-428.
• Jones KL, Jones MC, del Campo M. Facial Defects as Major Feature. Smith's Recognizable Patterns of Human Malformation. 8th ed. WB-Saunders; 2021: 334.