Controversies in the Diagnosis and Management of the Robin Sequence

Abstract

The Robin sequence, previously known as the Pierre Robin syndrome, is characterized by the sequence of clinical events that result from a small mandible. The tongue becomes posteriorly displaced (glossoptosis) and obstructs the airway. The obstructing tongue also makes oral feeding difficult and, in severe cases, impossible. Patients with Robin sequence may also present with a cleft palate, although this is not necessary to make the diagnosis. The small mandible either results from an inherent growth problem (genetic or syndromic) or is deformational where intrauterine growth of the mandible is restricted. Conditions of syndromic patients are generally more severe and difficult to treat. The phenomenon of "catch-up" growth is disputed, although it is likely to occur in deformational but not syndromic patients. Patients with Robin sequence are best managed by a multidisciplinary team familiar with the diagnoses and treatment of difficult pediatric airways. Approximately 70% of Robin infants are successfully managed by prone positioning alone. Tracheostomy is necessary in approximately 10% of these patients, especially for subglottic obstructions including laryngomalacia and tracheomalacia. Tracheostomy should be avoided if possible. Treatment of the remaining 20% remains highly contentious. Tongue-lip adhesion, nasopharyngeal airways, and distraction osteogenesis all have strong advocates. Ideally, treatment should be individualized. Patients who will have catch-up growth of the mandible will only need a tongue-lip or nasopharyngeal airway as a temporary measure. Patients who we know will not have catch-up growth will benefit from early distraction osteogenesis.

Semi-Automatic Volumetric Segmentation of the Upper Airways in Patients with Pierre Robin Sequence

“…Even if consensus exists for treating mild cases with prone positioning alone or for treating with tracheostomy cases with severe subglottic obstructions, there is still an ongoing controversy on whether and how many of the remaining mild cases will have a catchup growth of the underdeveloped mandible. As brilliantly summarized by Mackay in his analysis of controversies in the diagnosis and management of PRS 12 , approximately 70% of all patients with PRS will be successfully managed by prone positioning alone, while in rare cases tracheostomy will be necessary (10%). Major controversy exists on what to do in the remaining 20% of patients with PRS.…”

“…Breathing impairment is a major problem in patients with PRS [9][10][11] . The assessment of the impairment is based on clinical parameters (episode of desaturation, spontaneously and during feeding and sleep) and growth of facial structures during the first two years of life [9][10][11][12] . Many clinicians suggest treating mild cases with prone positioning using special "sniffing air" beds or other non-invasive respiratory support 13 .…”

Airway Management in Neonates with Pierre Robin Syndrome along with Mobius Syndrome and Platoglossal Fusion

“…Panendoscopy is invaluable in determining the site of airway obstruction, and patients should also be evaluated by turning them in different positions to see how gravity can ameliorate of exacerbate their airway obstruction. Prone position can relieve airway obstruction in as many as 70% of these patients, contrary to the American Academy of Pediatrics "Back to Sleep" program to minimize sudden infant death syndrome [21,22]. As much as 60% of patients with PRS may have associated congenital anomalies such as Stickler, Velocardiofacial and Treacher-Collins syndromes.…”

“…This can sometimes be prevented by use of the prone position, specific airway adjuncts, and/or tying the tongue to the chin. Occasionally a tracheostomy may be necessary [2,22].…”

Veterinary Dysmorphology

“…In addition to heterogeneity and pleiotropy, another phenomenon may be behind multiple abnormalities: they may be the consequence of only one initial defect that provokes the occurrence of new events in a chain reaction, characterizing a dysmorphogenetic sequence. For instance, micrognathia can unleash retroglossoptosis which, in turn, causes cleft palate and respiratory distress, a condition known as Pierre Robin sequence (Mackay, 2011).…”