Pierre Robin syndrome: An update

Prognosis of airway obstruction and feeding difficulty in the Robin sequence

Pierre Robin sequence results from a cascade of events that occur during embryologic development and frequently presents with cleft palate. Some studies have shown speech outcomes to be worse in patients with Pierre Robin sequence after cleft palate repair. A cohort of Pierre Robin sequence patients who all required an airway intervention and nasogastric feeding in the neonatal period were identified and speech outcomes assessed at 5 years of age. A cleft- and sex-matched non-Pierre Robin sequence, cleft palate-only comparison group was also identified from the same institution and study period. A total of 24 patients with Pierre Robin sequence that required airway and nutritional support in the neonatal period were matched for age, sex, and cleft type to a group of 24 non-Pierre Robin sequence cleft patients. There was no significant difference in the incidence of oronasal fistula between the groups. Secondary surgery for velopharyngeal incompetence was significantly more (p = 0.017) in the Pierre Robin sequence group, who also had significantly greater nasality (p = 0.031) and cleft speech characteristic (p = 0.023) scores. The authors hypothesize that other factors may exist in Pierre Robin sequence that may lead to poor speech outcomes. The authors would suggest counseling parents of children with Pierre Robin sequence that have required a neonatal airway intervention, that speech development may be poorer than in other children with cleft palate, and that these children will have a significantly higher incidence of secondary speech surgery. Risk, II.

Mandibular Traction—An Alternative Treatment in Infants With Pierre Robin Sequence

Relevance. Despite extensive investigation of Pierre Robin sequence (PRS), significant challenges remain in the treatment and rehabilitation of infants with congenital cleft lip and palate, including alveolar and palatal clefts affecting craniofacial development across the transverse, vertical, and sagittal planes. The coexistence of cleft palate and Pierre Robin sequence substantially complicates orthodontic management at different stages of neonatal care. In PRS, cleft palate associated with glossoptosis and micrognathia frequently results in acute airway obstruction and feeding difficulties, necessitating urgent specialized orthodontic care within the first 24 hours after birth. Materials and methods. To achieve the study objectives, a novel orthodontic appliance was developed (patent application No. 2025101519, January 25, 2025). The appliance was used as an emergency intervention in five newborns with mild to moderate Pierre Robin sequence during the first days of life. Clinical use was carried out at the Perinatal Center (Neonatal Pathology Unit) and the Dental Department of the Clinical Diagnostic Center of Republican Hospital No. 1 – National Center of Medicine named after M. E. Nikolaev (Yakutsk, Russian Federation). Results. Newborns adapted to the appliance within the first three days, with restoration of airway patency and sucking function, allowing independent oral feeding and subsequent removal of the nasogastric tube when clinically indicated. The appliance was worn continuously and cleaned once daily using infant soap. Replacement of the appliance was planned after 1.5–2 months, based on the infant’s growth and weight gain and following endoscopic reassessment. Conclusion. Use of an anti-glossoptosis orthodontic appliance with a contoured palatal surface and a targeted intra-cleft extension enables effective early management of acute respiratory compromise and feeding difficulties in newborns with Pierre Robin sequence during the first days of life.

Pierre Robin sequence (PRS) is a triad of micrognathia, glossoptosis, and respiratory distress. There is no standard clinical classification used in the management of neonatal airway in patients with PRS. The goal of our study was to review the presentation and management of patients with PRS and formulate a clinical grading system and treatment algorithm. A 10-year retrospective review of all neonates diagnosed with PRS was performed after obtaining institutional ethics approval. Patients were identified using our cleft lip and palate program database. Inclusion criteria were 2 of the following 3 clinical features-glossoptosis, retrognathia, or airway obstruction. We collected demographic data, clinical information (coexisting airway morbidity, maxillary-mandibular discrepancy, type of intervention used, complications, and outcomes (feeding, length of stay, and airway status) during the first year of life. Sixty-three patients met our inclusion criteria. Of these, 55 (87%) had cleft palate and 17 (27%) were syndromic. Forty-eight (76%) patients were managed by prone positioning. Of the 15 surgically managed patients, the initial procedure was floor of mouth release in 7, mandibular distraction osteogenesis (MDO) in 4, and tongue-lip adhesion in 4. Five patients with coexisting airway morbidity needed a second surgery; 2 had MDO and 3 tracheostomies (one patient was later decannulated). Seven (47%) of the surgically managed patients required a gastrostomy tube. At present, there is no consensus on neonatal airway management in infants with PRS. From our review of 63 patients with PRS, we hereby propose a simple 4-point classification system and treatment algorithm, based on clinical features.

Pierre Robin sequence (PRS) is characterized by micrognathia, glossoptosis, and upper airway obstruction. This study aimed to compare the dentoskeletal characteristics of children diagnosed with non-syndromic PRS and those with cleft palate. This study was conducted on the non-syndromic PRS patients in the database of our hospital. The control group of non-syndromic isolated incomplete cleft palate patients was matched from the same database by age, gender and weight in a 1:3 ratio. The dentoskeletal characteristics were compared between the PRS and control groups. The study included 14 patients in the PRS group and 42 patients in the control group. A point-Nasion-B point (ANB) angle was significantly greater in the PRS group compared with the control group. The PRS group exhibited a significantly lower ratio of the linear distance between Articulare and Gonion (ArGo) to the distance between Gonion and Pogonion (GoPo) compared to the control group. Additionally, the anteroposterior length and area of the lower pharyngeal airway space (LPAS) were markedly reduced in the PRS group. The ANB angle, the ArGo/GoPO ratio and the anteroposterior length and area of LPAS could serve as valuable indicators to identify micrognathia in patients with non-syndromic PRS.

Pierre Robin sequence (PRS) is an inherited disorder that affects one in between 8,500 and 14,000 people and is characterized by a triad of clinical signs. These include micrognathia, glossoptosis and obstruction of the upper airway, typically associated with palatal cleft. PRS has also been associated with various ocular complications, including high congenital myopia, congenital glaucoma, and retinal detachment. Because of the clinical importance of PRS, it is critical to illustrate the features of the Robin sequence to clearly define its primary and secondary clinical signs. We describe a patient with PRS who developed keratoconus as a rare manifestation of the disease and its management.

The children with Pierre Robin Sequence (PRS) have anatomical and physiological challenges of airway management. The children with PRS have difficult airway caused by micrognathia, glossoptosis, and cleft palate. The patients’ airway management who have PRS is dificult and requires attention. Here we present a 5-year-old girl with PRS, admitted to our hospital for cleft palate repair surgery. She also had a history of traсheostomy. Otholaryngologists had to perform trachestomy for this operation. The patient had an uneventful operative and postoperative period. We wanted to discuss the difficulties of airway management of the children with PRS with this case report. Anaesthesiologists must be ready for the challenges and otholaryngologists, must also be ready to manage these difficult airways. In addition, bronchospasm and airway obstruction after extubation are very common complications, so careful postoperative monitoring should be performed.

Introduction: Pierre Robin Sequence (PRS) is characterized by the presence of micrognathia, glossoptosis, and airway obstruction. While syndromic children may require multiple procedures to address airway obstruction and malocclusion, one of the controversies in non-syndromic PRS is the potential for “catch-up” mandibular growth equivalent to children without craniofacial diagnoses. Here, we evaluate long-term requirements of orthognathic surgery at skeletal maturity in PRS patients. Methods: 115 children diagnosed with PRS were evaluated from institutions. Children ≥13 years of age were included and patients who underwent any type of mandibular distraction or surgery prior to skeletal maturity were excluded. Demographics, surgical, and orthodontic histories were reviewed. Descriptive statistics were reported. Chi-square was used to compare groups. Results: 43 patients with PRS met inclusion criteria (57% female; mean age: 20 ± 3.3 years). Mean length of follow up was 14.2 ± 5.2 years. 18 patients (41%) were diagnosed as syndromic, the majority of which was Stickler Syndrome. 41 patients (95%) had a history of a cleft palate and of those patients, 18 (44%) had velopharyngeal insufficiency necessitating surgery. Data was available for 42 patients in regards to orthodontic and orthognathic care. Orthodontic evaluation revealed that 41 patients (98%) had a history of orthodontic treatment and 20 (48%), 17 (40%), and 5 (12%) were classified as Angle Class I, II, and III, respectively. Subset analysis revealed that 13 and 4 patients with a syndromic diagnosis were Class I and class II, respectively, while 1 was class III (p<0.05). A total of 17 (39.5%) patients underwent or were recommended to undergo orthognathic surgery due to Class II (n=11/17, 65%) or Class III (n=3/17, 18%) malocclusion. When PRS children with surgical Class II malocclusion were separated into nonsyndromic versus syndromic subgroups, 9/11 (80%) were nonsyndromic and 2/11 (18%) were syndromic. Overall, 9/25 (36%) of nonsyndromic and 2/18 (11%) of syndromic PRS children required orthognathic surgery to specifically address maxillomandibular and occlusal abnormalities (p=0.09). Conclusion: The presented study suggests deficient long-term mandibular growth of nonsyndromic PRS children is relatively similar to that of children with syndromic PRS. These findings lie in contrast to the concept of mandibular “catch-up” growth and suggest that the maxillomandibular relationship in PRS may not resolve without intervention.

Pierre Robin syndrome is characterized by micrognathia, glossoptosis, and cleft palate. Infants with Pierre Robin syndrome causes feeding difficulty, upper airway obstruction, and other symptoms. This study aims to examine the effects of applying dysphagia treatment to infants with Pierre Robin syndrome. The study participant was an infant who was born four weeks premature and referred for dysphagia treatment approximately 100 days after birth. At the initial assessment, the infant showed oral sensory sensitivity, a high level of facial and masticatory muscle tension, and a low stability of the chin and cheeks with almost no normal “sucking-swallowing-breathing” pattern. We set the baseline period and intervention period using the AB design. During the baseline period, non-nutritive sucking training using a rubber nipple was conducted without implementing an oral stimulation intervention. During the intervention period, non-nutritive sucking training and an oral stimulation intervention were performed. After the intervention period, the infant’s daily oral intake and oral intake per time significantly increased compared to that during the baseline period. We observed that the oral intake time of the infant decreased during the intervention period compared to that in the baseline period, which indicated an improvement in control over the chin, tongue, and lip movements, a change in muscular tension, and stabilization of the “sucking-swallowing-breathing” pattern. We provided dysphagia treatment before breastfeeding, it was positive effects such as normal development of the infant, transition from tube feeding to bottle feeding, and enhancement of overall oral motor function.

The aim of this study was to evaluate pre-operative nutritional status, associated syndromes and abnormalities, and post-operative outcomes of patients with Pierre Robin Sequence (PRS) versus those with non-syndromic isolated cleft palate (CIP). Between January 1995 and December 2013, patients with a cleft palate Veau I-II according to the Veau classification with and without PRS who underwent primary repair were retrospectively analyzed. The nutrition status, age at the time of palatoplasty, additional anomalies, gestational complications, and post-operative speech abnormalities and outcomes were evaluated. A total of 59 patients with PRS (PRS group) and 132 patients without PRS (non-PRS group) were included in the study. Of all patients, 92 were males and 99 were females with a mean age of 14 ± 4.18 (range, 6 to 26) years. The rate of gestational complications, enteral nutrition, complete cleft, additional anomalies, and velopharyngeal insufficiency was significantly higher in the PRS group (P < 0.05). However, the incidence of fistulas and age at the time of palatoplasty did not significantly differ between the groups. Based on our study results, enteral nutrition, respiratory problems, pregnancy complications, velopharyngeal insufficiency, and additional anomalies, but not post-operative palatal fistulas, are more frequently seen in patients with PRS. Although pre-operative care and treatment and rehabilitation in patients with PRS are more complicated than those with the CIP, our experience demonstrates that meticulous repair and follow-up can minimize complications, such as fistulas.

PurposeThis study aimed to evaluate the effectiveness of the four-section approach using two-dimensional sonography in diagnosing Pierre Robin sequence (PRS) during second-trimester screening.MethodsA prospective study was conducted on low-risk pregnant women undergoing routine mid-trimester screening. Cases with suspected micrognathia prenatally were included and examined using the four-section approach. Initially, we measured the inferior facial angle (IFA) for fetuses suspected of having micrognathia. Subsequently, in the oblique coronal section via the oral fissure, we examined the continuity of the hard and soft palate line. Finally, dynamic scanning of both the sagittal and coronal sections of the mandible was performed to confirm whether the echogenic tongue was displaced posteriorly. All fetuses diagnosed with PRS were followed up through autopsy and postnatal evaluation.ResultsForty-three fetuses were initially subjectively suspected of having micrognathia by sonographers. After objective IFA measurement, 25 cases had an IFA < 50°, while 18 had an IFA > 50°. Among the 25 cases with IFA < 50°, we identified 13 cases of PRS with micrognathia, cleft palate (CP), and glossoptosis. However, one case failed to be diagnosed prenatally because it had micrognathia and CP but no glossoptosis. Eleven cases had neither CP nor glossoptosis yet exhibited other malformations. Among the 18 fetuses with IFA > 50°, 15 cases were normal, while three cases had other deformities. In this study cohort, no false-positive results were found. The four-section approach for diagnosing PRS showed a sensitivity of 92.9%, a specificity of 100%, a positive predictive value of 100%, and a negative predictive value of 91.7%.ConclusionThe four-section method proved highly effective in assessing PRS during second-trimester sonographic scans. The combined evaluation of micrognathia and glossoptosis can remarkably enhance the accuracy of prenatal PRS diagnosis.Supplementary InformationThe online version contains supplementary material available at 10.1007/s10396-025-01556-x.

ObjectiveTo compare 3D mandibular morphometrics of neonates with Pierre Robin sequence (PRS) to age-matched controls, establish normative data, and better understand anatomic differences.DesignRetrospective case-control study.SettingTertiary pediatric medical center.PatientsTwenty-five neonates with non-syndromic PRS (mean age 15 days) with computed tomography (CT) scans of the head and mandibular distraction osteogenesis (MDO) and 25 age-matched controls (mean age 14 days) with CT scans of the head.InterventionsNone.Main Outcome MeasuresStandardized morphometric measurements, including linear distances, angles, and ratios, were generated from digital 3D reconstructions of mandibular anatomy.ResultsAsymmetry in PRS body length was significantly higher than in control mandibles (p = .006). PRS measurements larger than control measurements included intercondylar distance (p = .044), intergonial distance (p = .008), pogonion-interdental distance (p = .015), ramus height (p = .001), and ramus height to body length ratio (p < .001). PRS measurements smaller than control measurements included intercondylar angle (p < .001), body length (p < .001), and effective mandibular length (p < .001).ConclusionsIn a cohort of neonates with PRS severe enough to warrant MDO, findings indicate that micrognathia is constituted by a wide and antero-posteriorly short mandible for its height. Except for body length, PRS and control mandibles are similarly asymmetrical in other dimensions. These findings may contextualize structural abnormalities contributing to glossoptosis and airway obstruction in PRS, with implications for surgical management, although decision-making remains primarily guided by clinical severity of airway obstruction.

Pierre Robin sequence (PRS) is a rare congenital anomaly characterized by the triad of micrognathia, glossoptosis, and airway obstruction, with an incidence of approximately 1 in 8500 live births. Managing neonates with PRS, particularly during anesthesia, poses significant challenges due to airway obstruction, which may be compounded by associated congenital anomalies and medical complications. This case report describes the anesthetic management of a 28-day-old female neonate with PRS and a pre-existing hypoxic-ischemic injury. The neonate presented with symptoms of recurrent regurgitation and noisy breathing, with a history of pneumonia and delayed onset sepsis, which resolved with medical management. The neonate had an orogastric tube in situ for feeding and was scheduled for a diagnostic bronchoscopy and feeding gastrostomy. On clinical examination, the neonate displayed the classical features of PRS, including micrognathia, glossoptosis, airway obstruction, and an incomplete post-palatal cleft. Imaging revealed a small patent foramen ovale with a left-to-right shunt, mild pulmonary arterial hypertension, and residual opacification in the left lower lobe, indicative of prior respiratory infection. These factors, combined with the known airway complications associated with PRS, necessitated careful anesthetic planning to ensure the safety and stability of the patient during diagnostic and therapeutic procedures. A combined general and regional anesthesia approach was selected. The neonate was induced using sevoflurane and air, and a pediatric flexible fiberoptic bronchoscope was inserted through a No. 1 i-gel as a conduit. Notably, neuromuscular blockers and opioids were avoided to maintain vocal cord mobility and minimize airway compromise. Bronchoscopy identified an adduction deformity of the posterior vocal cords. Subsequently, a gastrostomy was performed under spinal anesthesia without hemodynamic instability. In addition, a left-sided rectus sheath block was executed. Regional anesthesia minimized the reliance on systemic opioids, reduced the risks associated with general anesthesia, and facilitated a rapid recovery. Postoperatively, the neonate was transferred to the Neonatal Intensive Care Unit and demonstrated stable airway patency, normal limb movements, and adequate pain control. This case emphasizes the advantages of regional anesthesia in managing neonates with PRS. It offers a safer, opioid-sparing alternative to general anesthesia and mitigates the risks of airway compromise. We propose effective pain management techniques along with enhanced overall patient safety, thereby contributing to improved anesthetic outcomes in neonates with complex airway challenges.

Pierre Robin Sequence (PRS) is a congenital condition characterized by micrognathia, glossoptosis, and airway obstruction, often accompanied by a cleft palate. Severe cases pose additional challenges in surgical management due to anatomical abnormalities. A 3-year-old male with severe PRS underwent a cleft palate repair procedure, which was a multidisciplinary approach, and the successful repair of the cleft palate and uneventful postoperative recovery were attributed to the team's collaborative efforts. This case also highlights the importance of genetic evaluation and testing in managing PRS cases. This case highlights the importance of thorough preoperative assessment, advanced airway management skills, and genetic evaluation for better patient outcomes. Future research should explore innovative techniques and strategies to improve the outcomes of patients with PRS and other complex congenital conditions.