Although Pierre Robin sequence (PRS) is a well-known condition, heterogeneity in diagnostic criteria has hampered our ability to advance clinical knowledge in PRS. Micrognathia is the primary characteristic of PRS, and other mandatory diagnostic characteristics include glossoptosis and airway obstruction. Cleft palate is a common and additional feature. PRS is an etiologically heterogeneous condition that can occur in isolation or in association with other congenital anomalies and/or a known syndrome. Children with PRS require care delivered by a multidisciplinary craniofacial team to guide treatment from infancy through adulthood. The goals of interventions are to optimize the child’s airway, feeding, and growth and to address their orthodontic and orthognathic needs over time. We focus on PRS-specific evaluations and treatments that are most relevant during specific periods of growth and development. Clinical outcomes for children with PRS are closely tied to their degree of upper airway obstruction, the presence of associated congenital anomalies, and the underlying diagnosis. Awareness of what is known and the gaps that remain in PRS outcomes studies, along with open discussions about outcomes most relevant to our patients will help us counsel families, understand patient-specific goals and tailor treatment planning for patients with PRS.

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Pierre Robin Sequence

  • Kelly N. Evans,
  • Carrie L. Heike

摘要

Although Pierre Robin sequence (PRS) is a well-known condition, heterogeneity in diagnostic criteria has hampered our ability to advance clinical knowledge in PRS. Micrognathia is the primary characteristic of PRS, and other mandatory diagnostic characteristics include glossoptosis and airway obstruction. Cleft palate is a common and additional feature. PRS is an etiologically heterogeneous condition that can occur in isolation or in association with other congenital anomalies and/or a known syndrome. Children with PRS require care delivered by a multidisciplinary craniofacial team to guide treatment from infancy through adulthood. The goals of interventions are to optimize the child’s airway, feeding, and growth and to address their orthodontic and orthognathic needs over time. We focus on PRS-specific evaluations and treatments that are most relevant during specific periods of growth and development. Clinical outcomes for children with PRS are closely tied to their degree of upper airway obstruction, the presence of associated congenital anomalies, and the underlying diagnosis. Awareness of what is known and the gaps that remain in PRS outcomes studies, along with open discussions about outcomes most relevant to our patients will help us counsel families, understand patient-specific goals and tailor treatment planning for patients with PRS.