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International Journal of Surgery Case... Jun 2024Pierre Robin Sequence (PRS) is a rare and complex condition that often necessitates the collaboration of a full medical team from various disciplines to save the lives...
INTRODUCTION AND IMPORTANCE
Pierre Robin Sequence (PRS) is a rare and complex condition that often necessitates the collaboration of a full medical team from various disciplines to save the lives of babies with this genetic mutation, characterized by three clinical manifestations: glossoptosis, micrognathia, and cleft palate. Treatment primarily involves freeing upper airway obstructions and enhancing nutrition to allow the babies to lead a normal life. The lip-tongue adhesion procedure has been identified in medical literature as the recommended approach to addressing the issues associated with Pierre Robin sequence, and this method was successfully adopted in this case.
CASE PRESENTATION
2.5 kg, a newborn male baby with an abnormal position of the tongue and the inability to breastfeed and feed normally, without any medical, family, or social history. Following an examination, it was discovered that the baby had a posterior position of the tongue, micrognathia, and a cleft palate, leading to a diagnosis of Pierre Robin Sequence (Figs. 1, 2). Preparations for the baby's surgery have commenced. The baby was solely fed intravenously and provided with an oxygen mask for 25 days until all necessary consultations were completed and the baby's readiness for surgery and general anesthesia was confirmed. The surgical plan involved attaching the tongue to the lower lip to enhance the tongue's muscular strength, addressing the posterior position issue, and delaying the palate repair until the age of 1.5 years.
CLINICAL DISCUSSION
PRS is a clinical entity characterized by the triad of mandibular hypoplasia (small jaw), glossoptosis (hypotonic, retracted tongue) and respiratory obstruction that require a multidisciplinary team for initial evaluation and management and maintenance care. TLA is a simple and effective procedure for increasing the cross-sectional area of oropharyngeal port.
CONCLUSION
Handling airway obstruction in Pierre Robin Sequence involves various factors, and there is no universal treatment that can address all cases. Appropriate airway management strategies and feeding programs are essential for each individual with PRS. Our review highlights that TLA is a straightforward surgical procedure with minimal or no short-term complications. TLA should be considered as the primary surgical intervention when relief is needed.
PubMed: 38936141
DOI: 10.1016/j.ijscr.2024.109932 -
The British Journal of Oral &... Apr 2024Treatment of children with Pierre Robin sequence (PRS) having a hypoplastic mandible and upper airway distress after birth may consist of external distraction devices....
Treatment of children with Pierre Robin sequence (PRS) having a hypoplastic mandible and upper airway distress after birth may consist of external distraction devices. Shape anomalies of the permanent molars and positional changes due to surgery have been documented. The aim of this study is to compare the long-term effects (>5 years) on the growth pattern of PRS-patients treated with an external mandibular distraction device with no-surgery cases and to investigate the dental development or damage. A retrospective cohort study was performed. PRS-patients with and without surgery were included. A digital cephalometric analysis was made to evaluate the growth pattern of the mandible between groups as well as with normal values. Nine of 19 patients underwent an external mandibular distraction. All children were extubated after 4-5 days with no signs of respiratory distress. Screw and device loosening presented in one patient. The articular and sellar angles were significantly larger and smaller, respectively, in the Surgery group. Mandibular distraction surgery might result in a 'growth boost' compared to the No-surgery group. No significant difference in dental development was found. Mandibular distraction osteogenesis is an effective way of relieving severe upper airway obstruction.
PubMed: 38902108
DOI: 10.1016/j.bjoms.2024.04.008 -
The Journal of Craniofacial Surgery Jun 2024The hypoplastic mandible in the congenital condition Pierre Robin sequence (PRS) displaces the base of the tongue posteriorly, which results in upper airway obstruction...
BACKGROUND
The hypoplastic mandible in the congenital condition Pierre Robin sequence (PRS) displaces the base of the tongue posteriorly, which results in upper airway obstruction (UAO) that can potentially be corrected with mandibular distraction osteogenesis (MDO). Jaw thrust (JT) is routinely performed during evaluation of the airway; similar to MDO, it projects the mandible and tongue anteriorly to open the airway. The authors demonstrate that JT can be used as a criterion to predict successful MDO outcomes in infants with PRS.
METHODS
The study was a single-center, retrospective chart review of infants diagnosed with PRS between 2016 and 2023. Data regarding their demographics, comorbid diagnoses, JT success, airway anomalies, laryngeal grade of view, apnea-hypopnea index, and perioperative course were statistically analyzed.
RESULTS
Of the 16 patients included in the study, 11 had successful relief of their airway obstruction with JT and proceeded with MDO. The unsuccessful JT group had significantly greater proportions of females, birth prematurity, gastrostomies, tracheostomies, and longer hospital stays. In the successful JT group, both the mean laryngeal grade of view (P=0.029) and mean apnea-hypopnea index (P=0.025) improved significantly post-MDO. Post-MDO tracheostomy was also avoided in all but 1 patient who was not previously tracheostomized.
CONCLUSIONS
There is no widely accepted algorithm to guide craniofacial surgeons on the optimal intervention for relieving UAO in infants with PRS. In our institutional experience, patients whose preoperative JT relieved UAO also successfully relieved UAO with MDO. In patients with PRS, JT may be a useful criterion for selecting appropriate candidates for MDO.
PubMed: 38861322
DOI: 10.1097/SCS.0000000000010214 -
The Journal of Craniofacial Surgery Jun 2024There is currently a lack of scientific bibliometric analyses in the field of Pierre Robin sequence (PRS). Pierre Robin sequence is known for its clinical triad of...
There is currently a lack of scientific bibliometric analyses in the field of Pierre Robin sequence (PRS). Pierre Robin sequence is known for its clinical triad of micrognathia, glossoptosis, airway obstruction, and possible secondary cleft palate. These defects can lead to upper airway obstruction, sleep apnea, feeding difficulties, affect an individual's growth and development, education level, and in severe cases can be life-threatening. Through analysis of literature retrieved from the Web of Science Core Collection (WoSCC) database using Results Analysis and Citation Report and Citespace software, 933 original articles and reviews were included after manual screening. The overall trend for the number of annual publications and citations was increasing. On the basis of the analysis, airway evaluation and treatment, mandibular distraction osteogenesis (MDO), as well as descriptions of PRS characteristics have been the focus of research in this field. In addition, with advances in new technologies such as gene sequencing and expanding understanding of diseases among researchers, research on genetics and etiology related to PRS has become a growing trend.
PubMed: 38830018
DOI: 10.1097/SCS.0000000000010186 -
Orthodontics & Craniofacial Research May 2024This study aimed to establish a fully digital measurement protocol for standardizing the description of hard palate and cleft morphology in neonates with an isolated...
OBJECTIVES
This study aimed to establish a fully digital measurement protocol for standardizing the description of hard palate and cleft morphology in neonates with an isolated cleft palate (CPO) and Pierre Robin sequence (PRS).
MATERIALS AND METHODS
A total of 20 digitized plaster models of neonates with CPO and 20 digitized plaster models of neonates with PRS were retrospectively investigated. For the control group, the hard palate was segmented from 21 pre-existing 1.5 T MRI datasets of neonates and exported as an STL file. The digital models were marked with predefined reference points by three raters. Distance, angular, and area measurements were performed using Blender and MeshLab.
RESULTS
Neonates with CPO (20.20 ± 2.33 mm) and PRS (21.41 ± 1.81 mm) had a significantly shorter hard palate than the control group (23.44 ± 2.24 mm) (CPO vs. control: P < .001; PRS vs. control: P = .014). Notably, neonates with PRS (33.05 ± 1.95 mm) demonstrated a significantly wider intertuberosity distance than those with CPO (30.52 ± 2.28 mm) (P = .012). Furthermore, there were also significant differences measured between the cleft and control groups (25.22 ± 2.50 mm) (P < .001).
CONCLUSIONS
The data from this study demonstrate the feasibility of using MRI datasets to generate digital models of the hard palate. The presence of a cleft palate leads to pronounced adaptations of the total palatal surface area, dorsal width, and length of the hard palate. Mandibular retrognathia and altered tongue position in PRS, as opposed to CPO, might further impact palatal morphology and intertuberosity distance.
PubMed: 38783751
DOI: 10.1111/ocr.12818 -
The Journal of Craniofacial Surgery May 2024To investigate the growth patterns of the maxillomandibular complex in preadolescent patients with Pierre-Robin sequence (PRS).
Growth Patterns of the Maxillomandibular Complex in Preadolescent Patients With Pierre-Robin Sequence Using Cluster Analysis and Longitudinal Follow-Up Cephalometric Data.
OBJECTIVE
To investigate the growth patterns of the maxillomandibular complex in preadolescent patients with Pierre-Robin sequence (PRS).
METHODS
The samples consisted of 20 preadolescent PRS patients who had cleft palate and did not undergo growth-modification therapy or surgical intervention [6 boys and 14 girls; mean age of lateral cephalograms taken, 8.8 y (T1) and 13.7 y (T2)]. According to k-means cluster analysis, four clusters were defined over 3 major groups at T1: (1) Both very retrusive maxilla and mandible group: Cluster-4 [n=4, very large gonial angle, very low facial height ratio (FHR)] and Cluster-1 (n=5, small gonial angle, normal FHR); (2) Retrusive maxilla and very retrusive mandible group (Cluster-3, n=7, normal gonial angle, very low FHR); and (3) Both normal maxilla and mandible group (Cluster-2, n=4, very large gonial angle, low FHR). Seven angular and ratio variables [sella-nasion-A point (SNA), sella-nasion-B point (SNB), A point-nasion-B point (ANB), saddle angle, gonial angle, mandibular-body-length/anterior-cranial-base-length (MBL/ACBL), and FHR] at T1 and T2 and growth change from T1 to T2 were investigated.
RESULTS
At T1, SNA, SNB, saddle angle, gonial angle (all P<0.05), and FHR (P<0.01) showed significant difference among 4 clusters. At T2, SNA, SNB and gonial angle (all P<0.05) still showed significant difference among 4 clusters. During T1 to T2, there was no significant change in variables at each cluster except an increase in MBL/ACBL in Cluster-1 and FHR in Cluster-3 (all P<0.05).
CONCLUSIONS
Preadolescent PRS patients exhibited diverse skeletal phenotypes at T1, which did not change significantly from their original skeletal patterns by growth during T1 to T2.
PubMed: 38771200
DOI: 10.1097/SCS.0000000000010187 -
The Laryngoscope May 2024We demonstrate pre-epiglottic baton plate as non-invasive treatment modality for initial airway management in newborns with Pierre Robin Sequence. A case example...
We demonstrate pre-epiglottic baton plate as non-invasive treatment modality for initial airway management in newborns with Pierre Robin Sequence. A case example illustrates management of upper airway obstruction and feeding using digital technology to facilitate customization. Laryngoscope, 2024.
PubMed: 38752606
DOI: 10.1002/lary.31508 -
The Journal of Craniofacial Surgery May 2024The Pierre Robin sequence (PRS) is characterized by the presence of micrognathia, glossoptosis, and respiratory obstruction during the neonatal period, its prompt...
BACKGROUND
The Pierre Robin sequence (PRS) is characterized by the presence of micrognathia, glossoptosis, and respiratory obstruction during the neonatal period, its prompt recognition allows to mitigate the associated morbidity and mortality. A diagnosis and treatment algorithm was previously proposed based on data from the literature to guide therapeutic efforts; therefore, it was proposed to carry out a new search for relevant evidence to update or complement it.
METHODS
A literature review of the subject was conducted in PubMed, Embase, and Cochrane databases, corresponding to the period between November 2016 and September 2021. Using the GRADE methodology, 38 articles from different clinical studies that discussed diagnostic tests or therapeutic approaches, directly or indirectly compared, were selected and evaluated.
RESULTS
After evaluating and analyzing the selected articles, the new information was incorporated into an updated algorithm according to the most recent evidence found for the diagnosis and comprehensive management of patients with PRS.
CONCLUSION
To date, there is no consensus in the literature on the treatment of patients with PRS nor are there multicenter studies comparing different management modalities. The indications to proceed with surgical strategies do not present changes with respect to the previous article. Nutritional monitoring is the main objective, and the study of oral feeding is essential in all scenarios.
PubMed: 38747595
DOI: 10.1097/SCS.0000000000010240 -
Annals of Plastic Surgery Jun 2024Mandibular distraction osteogenesis (MDO) is rapidly becoming a standard of care for management of patients with severe Pierre Robin sequence. The tongue is brought...
OBJECTIVE
Mandibular distraction osteogenesis (MDO) is rapidly becoming a standard of care for management of patients with severe Pierre Robin sequence. The tongue is brought forward to alleviate airway obstruction. This study will look at an institutional, multisurgeon experience with MDO over 10 years.
DESIGN
A retrospective chart review was conducted.
SETTING
All patients who underwent MDO at the authors' institution from 2012 to 2022 were included. Three craniofacial surgeons performed all interventions.
PATIENTS
Demographics, preoperative and postoperative respiratory and feeding status, and distraction data were collected for 27 patients meeting inclusion criteria.
MAIN OUTCOME MEASURES
Primary outcomes were avoidance of a gastrostomy tube, avoidance of a tracheostomy, discharge from hospital on room air, and complications. A significance value of 0.05 was utilized.
RESULTS
The average age at MDO was 135 days, mean activation phase was 13.6 days, mean distraction length was 14.9 mm, and mean consolidation phase was 64.2 days. A longer activation phase was associated with discharge with a gastrostomy tube and a shorter activation phase was associated with discharge on full oral feeds. The ability to discharge on room air was associated with a shorter latency phase, shorter activation phase, and decreased distance of distraction.
CONCLUSIONS
The goal of MDO is to achieve full oral feeds with no respiratory support. Several different latency periods were used in this study, and a short latency period was demonstrated to be safe.
Topics: Humans; Pierre Robin Syndrome; Osteogenesis, Distraction; Retrospective Studies; Female; Male; Infant; Treatment Outcome; Mandible; Airway Obstruction
PubMed: 38725108
DOI: 10.1097/SAP.0000000000003949 -
Annals of Plastic Surgery Jun 2024Pierre Robin sequence (PRS), characterized by micrognathia, glossoptosis, cleft palate, and obstructed airways, is one of the craniofacial conditions challenging various...
BACKGROUND
Pierre Robin sequence (PRS), characterized by micrognathia, glossoptosis, cleft palate, and obstructed airways, is one of the craniofacial conditions challenging various approaches to managing compromised airways, ranging from conservative measures to invasive airway surgery. This study was conducted to identify predictive risk factors for tracheostomy in the PRS.
METHODS
A retrospective chart review was conducted at a tertiary referral hospital in Thailand. Children diagnosed with PRS from January 2010 to December 2021 were enrolled. Univariate and multivariate analysis methods were used to identify the risk factors.
RESULTS
Sixty-five patients with PRS were identified in electronic medical records, but 6 were excluded. Thirteen of the remaining 59 patients underwent tracheostomy. There were no significant differences in sex, preterm gestational age, cleft palate, associated syndromes, chromosome abnormalities, or cardiac or neurological involvement between patients who received tracheostomy and those who did not. However, patients with oropharyngeal dysfunction who received tracheostomy tended to use a nasogastric tube or percutaneous gastrostomy 92.3% of the time ( P = 0.043). In addition, patients with abnormal airways from endoscopy were more likely to undergo tracheostomy (odds ratio, 2.17; 95% confidence interval [CI], 1.20-3.90). Interestingly, patients with a sum of Apgar scores at 1 and 5 minutes <15 were more likely to undergo tracheostomy (adjusted odds ratio, 9.91; 95% CI, 1.32-74.52). Furthermore, patients with at least 3 identified comorbidities were more likely to undergo tracheostomy (adjusted odds ratio, 11.34; 95% CI, 1.16-111.15).
CONCLUSIONS
The need for tracheostomy depends on comorbidities, Apgar scores, and abnormal airway anatomy. Feeding methods can become more complex with tracheostomy. Prognostic risk factors can help guide treatment and counseling for health care workers and caregivers.
Topics: Humans; Pierre Robin Syndrome; Tracheostomy; Male; Thailand; Retrospective Studies; Female; Tertiary Care Centers; Prognosis; Infant, Newborn; Infant; Risk Factors; Risk Assessment
PubMed: 38718326
DOI: 10.1097/SAP.0000000000003885