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Child's Nervous System : ChNS :... Jul 2020The Pierre-Robin sequence (PRS) is a pattern of congenital facial abnormalities comprising micrognathia, glossoptosis, and airway obstruction. Associated spinal... (Review)
Review
INTRODUCTION
The Pierre-Robin sequence (PRS) is a pattern of congenital facial abnormalities comprising micrognathia, glossoptosis, and airway obstruction. Associated spinal pathologies have rarely been reported with PRS.
METHODS
We explore the molecular genetic basis of this association through a systematic review of spinal disease in patients with PRS. We also present an illustrative case of a PRS patient with tethered cord in the setting of chromosome 10q terminal deletion.
RESULTS
Our systematic literature review of spinal disease in patients with PRS revealed several patterns in the underlying genetic syndromes causing these conditions to co-occur. These principles are illustrated in the case of a 6-month-old female with PRS and a 14.34-Mb terminal deletion of chromosome 10q, who was found to have a sacral dimple during a routine outpatient checkup. Magnetic resonance imaging of the spine revealed a lumbar syrinx associated with tethered spinal cord. Surgical de-tethering was undertaken, with subsequent improvement in motor function and decrease in the size of the syrinx. The deletion of chromosome 10q in our patient had not previously been described in association with tethered cord or PRS.
CONCLUSION
Spinal pathologies are understudied contributors to disease burden in patients with PRS. The range of predisposing syndromes and mutations in patients with both PRS and spinal disorders remains poorly characterized but may be more defined than previously conceived. Clinical screening is most critical during neonatal and adolescent developmental periods with continued neurological assessment. This study emphasizes the need for early genetic testing and counseling in this patient population, in parallel with research efforts to develop molecular classifications to guide clinical management.
Topics: Adolescent; Airway Obstruction; Chromosome Deletion; Chromosomes, Human, Pair 10; Female; Humans; Infant; Infant, Newborn; Pierre Robin Syndrome; Spinal Diseases
PubMed: 32399800
DOI: 10.1007/s00381-020-04642-2 -
Plastic and Reconstructive Surgery Aug 2018There is a paucity of literature directly comparing tongue-lip adhesion versus mandibular distraction osteogenesis in surgical treatment of patients with Pierre Robin... (Comparative Study)
Comparative Study Review
There is a paucity of literature directly comparing tongue-lip adhesion versus mandibular distraction osteogenesis in surgical treatment of patients with Pierre Robin sequence. This study comprehensively reviews the literature for evaluating airway and feeding outcomes following mandibular distraction osteogenesis and tongue-lip adhesion. A search was performed using the MEDLINE and Embase databases for publications between 1960 and June of 2017. English-language, original studies subjects were included. Extracted data included prevention of tracheostomy (primary airway outcome) and ability to feed exclusively by mouth (primary feeding outcome). A total of 67 studies were included. Ninety-five percent of subjects (657 of 693) treated with mandibular distraction osteogenesis avoided tracheostomy, compared to 89% of subjects (289 of 323) treated with tongue-lip adhesion. Eighty-seven percent of subjects (323 of 370) treated with mandibular distraction osteogenesis achieved full oral feeds at latest follow-up. Seventy percent of subjects (110 of 157) treated with tongue-lip adhesion achieved full oral feeds at latest follow-up. The incidence of second intervention for recurrent obstruction ranged from 4 to 6 percent in mandibular distraction osteogenesis studies, compared to a range of 22 to 45 percent in tongue-lip adhesion studies. Variability of patient selection, surgical techniques, outcomes measurement methods, and follow-up length across studies precluded meta-analysis of the data. Both mandibular distraction osteogenesis and tongue-lip adhesion are effective alternatives to tracheostomy for patients who fail conservative management and improve feeding. Mandibular distraction osteogenesis may be superior to tongue-lip adhesion in long-term resolution of airway obstruction and avoidance of gastrostomy, but is associated with notable complications.
Topics: Humans; Lip; Mandible; Osteogenesis, Distraction; Pierre Robin Syndrome; Plastic Surgery Procedures; Tongue; Treatment Outcome
PubMed: 29870511
DOI: 10.1097/PRS.0000000000004581 -
Postepy Higieny I Medycyny... Dec 2015The muscle segment homeobox (MSX1) gene plays a crucial role in epithelial-mesenchymal tissue interactions in craniofacial development. It plays a regulative role in... (Review)
Review
The muscle segment homeobox (MSX1) gene plays a crucial role in epithelial-mesenchymal tissue interactions in craniofacial development. It plays a regulative role in cellular proliferation, differentiation and cell death. The human MSX1 domain was also found in cow (Bt 302906), mouse (Mm 123311), rat (Rn13592001), chicken (Gg 170873) and clawed toad (XI 547690). Cleft lip and palate is the most common anomaly of the facial part of the skull. The etiology is not fully understood, but it is believed that the key role is played by the genetic factor activated by environmental factors. Among the candidate genes whose mutations could lead to formation of the cleft, the MSX1 homeobox gene is mentioned. Mutations in the gene MSX1 can lead to isolated cleft deformities, but also cause other dismorphic changes. Among the most frequently mentioned is loss of permanent tooth buds (mostly of less than 4 teeth - hypodontia, including second premolars). Mutations of MSX1 are observed in the Pierre- Robin sequence, which may be one of the features of congenital defects or is observed as an isolated defect. Mutation of the gene can lead to the occurrence of a rare congenital defect Wiktop (dental-nail) syndrome. Deletion of a fragment MSX1 (4p16.3) located in the WHS critical region, may be a cause of some symptoms of Wolf-Hirschhorn syndrome.
Topics: Animals; Cleft Lip; Cleft Palate; DNA-Binding Proteins; Genes, Homeobox; Humans; MSX1 Transcription Factor; Mutation
PubMed: 27259221
DOI: No ID Found -
Mandibular Distraction Osteogenesis as a Primary Intervention in Infants With Pierre Robin Sequence.Annals of Plastic Surgery Jun 2021Pierre Robin sequence (PRS) is a triad of congenital facial abnormalities that can present as a syndrome (syndromic PRS [sPRS]) or an isolated entity (isolated PRS...
BACKGROUND
Pierre Robin sequence (PRS) is a triad of congenital facial abnormalities that can present as a syndrome (syndromic PRS [sPRS]) or an isolated entity (isolated PRS [iPRS]). Patients with PRS can develop airway and feeding problems that may result in failure to thrive. Mandibular distraction osteogenesis (MDO) is a method for improving the functional issues associated with breathing and feeding. There is a Paucity of literature evaluating the outcomes of MDO between sPRS and iPRS patients.
METHODS
An institutional review board-approved retrospective review of PRS patients managed by a single surgeon and treated with MDO between January 2015 and December 2019 at a tertiary referral hospital was performed. The patients were stratified into iPRS or sPRS based on gene testing. Airway outcome measures included avoidance of tracheostomy, relief of sleep apnea, and oxygen saturation improvement. Primary feeding measures included achievement of full oral feeds and growth/weight gain. Statistical analysis included t tests and χ2 tests where appropriate using SPSS.
RESULTS
Over the study period, of the 29 infants with PRS, 55% identified as iPRS and 45% as sPRS. There were no significant differences in the patient characteristics, apnea-hypoxia index (22.27 ± 12.27) and laryngeal view (3 ± 0.79) pre-MDO. After MDO, 83% of the subjects achieved a positive feeding outcome and 86% achieved a positive airway outcome with no statistical significance between sPRS and iPRS (P = 0.4369). There was a statistically significant change post-MDO in apnea-hypoxia index (5.24 ± 4.50, P = 0.02) and laryngeal view (1.59 ± 1.00, P = 0.01).
CONCLUSIONS
Our recent experience would lead us to believe that sPRS patients have greater morbidities and challenging clinical developments that, when properly evaluated, can be managed by MDO. There is a potential role for MDO in reducing the need for traditional surgical interventions for respiratory and feeding problems in both iPRS and sPRS patients.
Topics: Airway Obstruction; Humans; Infant; Mandible; Osteogenesis, Distraction; Pierre Robin Syndrome; Retrospective Studies; Treatment Outcome
PubMed: 33833161
DOI: 10.1097/SAP.0000000000002702 -
Journal of Clinical Sleep Medicine :... Mar 2019Although Pierre Robin sequence (PRS) is a major cause of neonatal obstructive sleep apnea (OSA), longitudinal studies reporting evolution with age are lacking. This...
STUDY OBJECTIVES
Although Pierre Robin sequence (PRS) is a major cause of neonatal obstructive sleep apnea (OSA), longitudinal studies reporting evolution with age are lacking. This study aimed to describe changes in sleep-related respiratory parameters and sleep architecture in neonates with PRS treated conservatively (defined for this paper as treatment without tracheostomy or mandibular distraction).
METHODS
A retrospective, 14-year, single-institution study of neonates with PRS who underwent diagnostic polysomnography (PSG) and at least one follow-up PSG. Those treated with surgery were excluded. Data were analyzed using a mixed-effects model with subject-specific random effect.
RESULTS
In a cohort of 21 infants, baseline PSG (mean age 0.9 ± 0.7 months) showed a total apnea-hypopnea index (AHI) of 24.3 ± 3.6 events/h, obstructive apnea-hypopnea index (OAHI) of 13.4 ± 1.6 events/h, central apnea index of 10.2 ± 3.2 events/h, and an arousal index of 28.3 ± 1.3 events/h (variables reported as least square means ± standard error of the mean). There was a significant reduction in AHI, OAHI, arousal index, and percentage of REM sleep with advancing age. Although 71% of infants achieved full oral feeds by one month of age, some infants remained underweight during infancy.
CONCLUSIONS
These neonates with PRS and OSA, treated conservatively, had an improvement in OAHI with advancing age with the median age of OSA resolution at 15 months. Factors potentially responsible include craniofacial growth and maturational changes of respiratory control. Further studies are necessary to determine the long-term effects of conservative management on growth and neurodevelopmental outcomes in these infants.
Topics: Female; Humans; Infant, Newborn; Longitudinal Studies; Male; Pierre Robin Syndrome; Polysomnography; Retrospective Studies; Sleep Apnea, Obstructive
PubMed: 30853035
DOI: 10.5664/jcsm.7680 -
Annals of Maxillofacial Surgery 2016The disorder currently accepted as Pierre Robin syndrome/anomaly/sequence (PRS) has been plagued by controversy ever since initially being described. Controversy exists...
CONTEXT
The disorder currently accepted as Pierre Robin syndrome/anomaly/sequence (PRS) has been plagued by controversy ever since initially being described. Controversy exists not only about the appropriate terminology and etiopathogenesis of the disorder but also about its management. Therefore, clinical findings and treatment outcomes of a large database of 266 PRS cases were compared with the current state of knowledge in scientific literature related to history, clinical description, diagnostic criteria, epidemiology, theories of oligohydramnios, mandibular catch-up growth, midfacial hyperplasia, and the timing of management.
AIMS OF PART 1
Display disparities of the widely published subject of PRS that exist within the literature.
SUBJECTS AND METHODS
A literature search related to diagnostic criteria was compared to findings of one of the largest PRS databases worldwide.
RESULTS
Regarding diagnostic criteria two subdivisions, the Fairbairn-Robin triad (FRT) and the Siebold-Robin sequence (SRS) can be clearly distinguished. Both present with micrognathia and glossoptosis, the former with, the latter, however, without a palatal cleft.
CONCLUSIONS
According to clear diagnostic criteria, PRS has to be subdivided in the future into FRT and SRS cases, as they may require different treatment approaches.
PubMed: 27563603
DOI: 10.4103/2231-0746.186133 -
Frontiers in Pediatrics 2023We aimed to measure the related indicators of the neonatal mandible in East China. This provides basic data for the study of the mandible position and morphology of...
OBJECTIVE
We aimed to measure the related indicators of the neonatal mandible in East China. This provides basic data for the study of the mandible position and morphology of normal newborns and can also provide data support for the diagnosis, evaluation, and treatment of the Pierre Robin sequence.
METHODS
First, we collected the CT data of normal neonates at the Nanjing Children's Hospital Affiliated with Nanjing Medical University between January 2013 and January 2019. The data included the maxilla and mandible, and neonates had no craniomaxillofacial-related malformation. We exported the data in DICOM format. In the second step, we imported the data into MIMICS 21.0 to reconstruct the data into a 3D model, and then we used the model to measure the different measurement items. Specific measurement items were as follows: ① Measurement of the angle α: We imported the CT data of the neonate into the software and reconstructed a 3D model. We observed the 3D model to find the left and right gonions (LGo and RGo) and the Menton (Me) and used the angle measurement tool of the software to appoint Me as the apex, and we connected the points LGo, Me, and RGo as angle α. ② Measurement of the distance between the left and right gonions: The distance measurement tool of the software was used to measure the distance between the bilateral gonions as a. ③ Measurement of the distance from the Me to the line between LGo and RGo: The LGo and RGo were connected as a line on the 3D model, then the distance between Me and the line was measured as b. ④ Measurement of the distance between the upper and lower jaw: The median sagittal view was found and the distance c between the foremost point of the upper jaw and the foremost point of the lower jaw was measured. We imported the measurement results into the SPSS software for statistical analysis.
RESULTS
Specific measurement results: ① Angle α: 86.34 ± 8.58°. ② Distance a: 63.63 ± 6.83 mm. ③ Distance b: 31.99 ± 3.70 mm. ④ Distance c: 2.28 ± 1.04 mm. Among all the above indicators, there was no statistical difference between gender.
CONCLUSIONS
In this study, 132 neonates were initially screened, of which 117 met the inclusion criteria and were finally included. There were 69 male and 48 female neonates. The indicators α, a, b, and c showed no statistical differences between male and female neonates; therefore, we combined the results to obtain the normal reference value: angle α: 86.34 ± 8.58°; distance a: 63.63 ± 6.83 mm; distance b: 31.99 ± 3.70 mm; distance c: 2.28 ± 1.04 mm.
PubMed: 37645036
DOI: 10.3389/fped.2023.1172909 -
Journal of Clinical Sleep Medicine :... Jul 2022Craniofacial malformations with micrognathia cause high grades of obstructive sleep apnea (OSA) measured by polysomnography (PSG). Mandibular distraction osteogenesis is...
STUDY OBJECTIVES
Craniofacial malformations with micrognathia cause high grades of obstructive sleep apnea (OSA) measured by polysomnography (PSG). Mandibular distraction osteogenesis is a novel procedure for upper airway obstruction relief. Our primary objective was to describe the utilization of PSGs to improve obstruction in patients undergoing mandibular distraction.
METHODS
This is a retrospective study. Patients with micrognathia and severe upper airway obstruction, presenting with severe OSA diagnosed by PSG, were included from a single tertiary care center between 2015 and 2019. PSGs were done (1) prior to surgery, (2) once the cosmetic goal was achieved (Post-Op 1), and (3) if residual moderate-to-severe OSA was seen, every 2 nights until mild or no OSA was achieved (Post-Op 2).
RESULTS
Thirteen patients were included. The median age at surgery was 1.1 months (10 days-3 months). All 13 patients had baseline severe OSA, with a median obstructive apnea-hypopnea index of 33 events/h and a median O nadir of 73%. Post-Op 1 PSG was done at a median of 6 days after surgery. Median first postoperative obstructive apnea-hypopnea index in all 13 patients was 6.8 events/h, with a median O nadir of 87%. A median additional distraction of 3 mm was needed beyond the traditionally recommended advancement. Long-term follow-up studies at or after 1 year were done in 5 patients, all showing persistent nonsevere OSA.
CONCLUSIONS
This is the first case series utilizing PSGs as a guide for mandibular distraction osteogenesis in patients with micrognathia showing the need for jaw overcorrection to achieve resolution of OSA.
CITATION
Kochhar R, Modi V, de Silva N, et al. Polysomnography-guided mandibular distraction osteogenesis in Pierre Robin sequence patients. . 2022;18(7):1749-1755.
Topics: Airway Obstruction; Humans; Infant; Mandible; Micrognathism; Osteogenesis, Distraction; Pierre Robin Syndrome; Polysomnography; Retrospective Studies; Sleep Apnea, Obstructive; Treatment Outcome
PubMed: 35332870
DOI: 10.5664/jcsm.9960 -
Plastic Surgery (Oakville, Ont.) Feb 2019Children with Pierre Robin sequence (PRS) have a complex clinical presentation and requires many health-care providers. Thus, multiple clinical pathways have been...
INTRODUCTION
Children with Pierre Robin sequence (PRS) have a complex clinical presentation and requires many health-care providers. Thus, multiple clinical pathways have been proposed on how to manage this population, with some opting for conservative measures while others opting for a surgical approach. However, no consensus has been reached on the most appropriate protocol.
OBJECTIVE
To present the treatment protocol for PRS at the Hospital for Sick Children. This will be evaluated through a qualitative examination of the approach from the patient's perspective, and a micro-costing analysis of the financial aspects of providing care.
METHODS
A retrospective cohort study was conducted to evaluate infants who were admitted with PRS and failure to thrive from January 2004 to December 2015. This was followed by a micro-costing analysis to evaluate the cost of the management protocol. Finally, a qualitative evaluation of the parent's perspective was done.
RESULTS
Eighty-nine patients were admitted with failure to thrive during the study period. Fourteen patients underwent surgical management. Fourteen patients required readmission for airway or feeding issues secondary to PRS. The average cost per patient was Can$105 996. With regard to the qualitative evaluation, key themes that were generated included stress upon hospital admission, variable methods of understanding PRS, good level of communication with the team, excellent hospital process, and challenging transition home.
CONCLUSION
These results will aid in the continual evolution of a protocol and provide important information on PRS to both families and centers that manage these children.
PubMed: 30854357
DOI: 10.1177/2292550318767922 -
Clinical Oral Investigations Sep 2017Partial tooth agenesis is frequently observed in Robin sequence. Tooth anomalies are increasingly considered as an extended phenotype of the cleft palate population. The...
OBJECTIVES
Partial tooth agenesis is frequently observed in Robin sequence. Tooth anomalies are increasingly considered as an extended phenotype of the cleft palate population. The study objective was to compare the prevalence and patterns of tooth agenesis in a group of patients with non-syndromic Robin sequence (ns-RS) and a group with non-syndromic cleft palate (ns-CP).
MATERIALS AND METHODS
The panoramic radiographs of 115 ns-RS and 191 ns-CP patients were assessed for agenesis of the permanent dentition (excluding third molars) and the patterns recorded using the Tooth Agenesis Code.
RESULTS
Partial tooth agenesis was observed in 47.8% of ns-RS and 29.8% of ns-CP patients with a greater prevalence in the mandibula than in the maxilla, particularly in ns-RS. The teeth most frequently absent in both groups were the mandibular second premolars and maxillary lateral incisors. Tooth agenesis was bilateral in two-thirds of affected ns-RS patients and one-half of ns-CP patients. In ns-RS, bilateral agenesis of the mandibular second premolars was more frequently observed in female than that in male patients. Completely symmetrical patterns of hypodontia were found in around 45% of ns-RS patients with tooth agenesis compared to 35% in ns-CP. No association was found between the extent of the palatal cleft and the severity of hypodontia.
CONCLUSION
Tooth agenesis is more prevalent in ns-RS than that in ns-CP, demonstrates a much greater predilection for the mandible in ns-RS, and bears no relation to the extent of the palatal cleft.
CLINICAL RELEVANCE
When compared to ns-CP, additional developmental disturbances are likely involved in the etiology of tooth agenesis in ns-RS. Future research could help identify the underlying genetic traits and aid in classifying patients in those with and without expected tooth agenesis in order to facilitate orthodontic management strategies.
Topics: Anodontia; Child; Cleft Palate; Female; Humans; Male; Netherlands; Phenotype; Pierre Robin Syndrome; Prevalence; Radiography, Panoramic
PubMed: 27933446
DOI: 10.1007/s00784-016-2020-z