Robin sequence: from diagnosis to development of an effective management plan

Abstract

The triad of micrognathia, glossoptosis, and resultant airway obstruction is known as Robin sequence (RS). Although RS is a well-recognized clinical entity, there is wide variability in the diagnosis and care of children born with RS. Systematic evaluations of treatments and clinical outcomes for children with RS are lacking despite the advances in clinical care over the past 20 years. We explore the pathogenesis, developmental and genetic models, morphology, and syndromes and malformations associated with RS. Current classification systems for RS do not account for the heterogeneity among infants with RS, and they do not allow for prediction of the optimal management course for an individual child. Although upper airway obstruction for some infants with RS can be treated adequately with positioning, other children may require a tracheostomy. Care must be customized for each patient with RS, and health care providers must understand the anatomy and mechanism of airway obstruction to develop an individualized treatment plan to improve breathing and achieve optimal growth and development. In this article we provide a comprehensive overview of evaluation strategies and therapeutic options for children born with RS. We also propose a conceptual treatment protocol to guide the provider who is caring for a child with RS.

FIGURE 1

A, U-shaped cleft palate. B, Endoscopy captured this intraoral view of glossoptosis; the tongue is actually pulled back into the cleft palate so that only the undersurface of the tongue is visible. (Image courtesy of Dr Jonathan Perkins, Division of Pediatric Otolaryngology, Department of Otolaryngology Head and Neck Surgery.) C, Computed-tomography scan sagittal view of posterior tongue occluding the pharyngeal airway in an infant with RS.

FIGURE 2

Illustration of the skeletal, soft tissue, and airway relationships in an infant with RS. Significant mandibular hypoplasia, glossoptosis, and a narrowed airway. (Illustration by Eden Palmer.)

FIGURE 3

The faces of RS. A, An infant with RS and mild mandibular hypoplasia. B, An infant with RS and more significant mandibular and maxillary hypoplasia and notable alveolar discrepancy.

FIGURE 4

An NPA in an infant with RS.

FIGURE 5

Presurgical photographs of 3 infants with RS who all failed prone positioning and ultimately underwent MDO in the first year of life. A, Prior management with an NPA (an NPA is in place in this photograph). B, Neonatal distraction. C, Initial management with tracheotomy and later MDO.

FIGURE 6

MDO in an infant with RS. A, Three-dimensional scan of the face and mandible before MDO. B, Mandible after consolidation. C, An infant during the activation phase of distraction (with a buried or internal device). Note that the activation pins are externally visible.

FIGURE 7

Protocol outlining clinical evaluation and medical and surgical management of RS related to airway obstruction. ^a Airway stability is defined as normal oxygen saturations, normal carbon dioxide level, and absence of work of breathing or signs of airway obstruction. ^b Centers may vary regarding which interventions are available. NG indicates nasogastric; VFSS, video fluoroscopic swallow study; GER, gastroesophageal reflux; G, gastrostomy; CT, computed tomography.