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Journal of Plastic, Reconstructive &... Aug 2015Cleft palate repair for Pierre Robin Sequence (PRS) patients has always been a challenge for surgeons and anesthetists. The aim of this systematic review is to... (Review)
Review
Cleft palate repair for Pierre Robin Sequence (PRS) patients has always been a challenge for surgeons and anesthetists. The aim of this systematic review is to investigate the outcome of cleft palate repair for PRS patients compared with cleft palate-only patients. All papers published before October 2014 were searched in the databases PubMed and MEDLINE. Search terms included "Pierre Robin Sequence," "cleft palate repair," and "speech result." Additional studies were identified by hand searching the reference lists of the papers retrieved from electronic search. Two independent reviewers assessed the eligibility of studies for inclusion, extracted the data, and assessed the quality of the studies. Six studies met the inclusion criteria. All but one study had multiple deficiencies in study designs. Four studies assessed the fistula rate of both groups, and all studies assessed some aspect of the speech results. Conflicting results and a lack of high-quality and long-term outcomes of reviewed studies provided no conclusive scientific evidence about whether the outcome of cleft palate repair for PRS patients was better or worse than cleft palate-only patients. Further well-designed, well-controlled, and long-term studies are needed.
Topics: Cleft Palate; Fistula; Humans; Patient Outcome Assessment; Phonetics; Pierre Robin Syndrome; Speech Intelligibility; Velopharyngeal Insufficiency
PubMed: 26187812
DOI: 10.1016/j.bjps.2015.04.015 -
International Journal of Oral and... Jul 2017Mandibular distraction osteogenesis (MDO) is an effective treatment for tongue-based airway obstruction in children with severe Pierre Robin sequence. An investigation... (Review)
Review
Mandibular distraction osteogenesis (MDO) is an effective treatment for tongue-based airway obstruction in children with severe Pierre Robin sequence. An investigation was performed to determine whether certain clinical factors influence the airway outcomes of MDO. A literature search of several databases was performed to identify studies providing individual patient data. Data extracted from the studies included patient sex, age at distraction, disease type, experience of any previous surgery on the airway, length of distraction, pre- and postoperative blood oxygen saturation nadir, and osteotomy design. Non-parametric tests and multivariate logistic regression analysis were conducted to investigate the potential interaction between these clinical factors and the efficacy of surgery. Five studies met the inclusion criteria, with data available for 73 individual patients. The results of the statistical analysis revealed that few of the factors investigated influenced the surgical efficacy in children with Pierre Robin sequence; the effect of the length of distraction was regarded as uncertain because of the limited amount of individual data available. In conclusion, no influencing factors were found, and according to this analysis, mandibular distraction may be a widely effective procedure. However, more well-designed studies and more individual data are needed to strengthen the results of this meta-analysis.
Topics: Airway Obstruction; Child; Humans; Mandible; Osteogenesis, Distraction; Pierre Robin Syndrome; Treatment Outcome
PubMed: 28372992
DOI: 10.1016/j.ijom.2017.02.1278 -
Pediatric Radiology Aug 2015Pierre Robin sequence is characterized by micrognathia and glossoptosis causing upper airway obstruction. Mandibular distraction osteogenesis is a mandibular lengthening... (Review)
Review
Pierre Robin sequence is characterized by micrognathia and glossoptosis causing upper airway obstruction. Mandibular distraction osteogenesis is a mandibular lengthening procedure performed in neonates and children with Pierre Robin sequence to alleviate airway compromise. This pictorial review demonstrates the role of imaging in the preoperative and postoperative assessment of these children. It is important for pediatric radiologists to know what information about the mandible and airway the craniofacial surgeon needs from preoperative imaging and to identify any complications these children may encounter after surgery.
Topics: Female; Humans; Infant; Infant, Newborn; Mandibular Advancement; Osteogenesis, Distraction; Pierre Robin Syndrome; Postoperative Care; Preoperative Care; Prognosis; Radiography, Dental; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 25792154
DOI: 10.1007/s00247-015-3323-y -
Journal of Plastic, Reconstructive &... Apr 2021
Topics: Airway Obstruction; Child, Preschool; Female; Humans; Infant; Male; Mandible; Osteogenesis, Distraction; Pierre Robin Syndrome; Postoperative Complications
PubMed: 33162386
DOI: 10.1016/j.bjps.2020.10.022 -
The Cleft Palate-craniofacial Journal :... Jul 2020To investigate airway morphology changes in patients with Pierre Robin sequence (PRS) pre-/post-mandibular distraction osteogenesis (MDO) and to compare morphologic...
OBJECTIVE
To investigate airway morphology changes in patients with Pierre Robin sequence (PRS) pre-/post-mandibular distraction osteogenesis (MDO) and to compare morphologic changes to age-matched controls.
DESIGN
Retrospective case-control study.
SETTING
Urban, academic, tertiary medical center.
PATIENTS, PARTICIPANTS
Fifteen patients with PRS after MDO to relieve upper airway obstruction (UAO) (2008-2018); age-matched controls for post-MDO patients.
INTERVENTIONS
Mandibular distraction osteogenesis, curvilinear internal mandibular distractors.
MAIN OUTCOME MEASURES
(1) Physiologic improvement after MDO (apnea-hypopnea index; minimum oxygen saturation); (2) airway size (volume, surface area, length, mean/minimum cross-sectional area), shape (lateral:anterior-posterior ratio, cross-sectional area ratios, uniformity, sphericity), and changes with MDO; and (3) post-MDO airway size, shape versus age-matched controls.
RESULTS
Airway size increased after MDO (volume, = .01; surface area, = .02; length, = .01), as did cross-sectional area (mean, = .02; minimum, = .02; minimum retropalatal, = .05, mid-retroglossal, = .02). Post-MDO PRS airways were larger than controls (volume, < .01; surface area, < .01; length, < .01, cross-sectional area, = .03). Airway shape remained nonuniform and flat post-MDO; control airways were round. Two syndromic patients required repeat MDO and had subphysiologic post-MDO airway cross-sectional area. Post-MDO PRS patients with supraphysiologic cross-sectional area along the entire airway had no UAO recurrence.
CONCLUSIONS
In this small, heterogenous patient sample, MDO increases airway size, may preferentially affect the retropalatal airway, and often results in supraphysiologic airway dimensions. These retropalatal changes may be important in relieving severe UAO in patients with PRS. Generalizability of our results is limited by small cohort size and patient heterogeneity.
Topics: Airway Obstruction; Case-Control Studies; Humans; Infant; Mandible; Osteogenesis, Distraction; Pierre Robin Syndrome; Retrospective Studies; Treatment Outcome
PubMed: 31964165
DOI: 10.1177/1055665619900624 -
Oncotarget Apr 2017We investigated a large family with Pierre Robin sequence (PRS).
BACKGROUND
We investigated a large family with Pierre Robin sequence (PRS).
AIM OF THE STUDY
This study aims to determine the genetic cause of PRS.
RESULTS
The reciprocal translocation t(4;6)(q22;p21) was identified to be segregated with PRS in a three-generation family. Whole-genome sequencing and Sanger sequencing successfully detected breakpoints in the intragenic regions of BMRP1B and GRM4. We hypothesized that PRS in this family was caused by (i) haploinsufficiency for BMPR1B or (ii) a gain of function mechanism mediated by the BMPR1B-GRM4 fusion gene. In an unrelated family, we identified another BMPR1B-splicing mutation that co-segregated with PRS.
CONCLUSION
We detected two BMPR1B mutations in two unrelated PRS families, suggesting that BMPR1B disruption is probably a cause of human PRS.
METHODS
GTG banding, comparative genomic hybridization, whole-genome sequencing, and Sanger sequencing were performed to identify the gene causing PRS.
Topics: Adolescent; Adult; Bone Morphogenetic Protein Receptors, Type I; Child; Child, Preschool; Comparative Genomic Hybridization; Female; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Humans; Infant; Karyotype; Male; Middle Aged; Mutation; Pedigree; Phenotype; Pierre Robin Syndrome; Translocation, Genetic; Whole Genome Sequencing; Young Adult
PubMed: 28418932
DOI: 10.18632/oncotarget.16531 -
The Journal of Craniofacial Surgery May 2023The tongue is an essential organ accounted for proper deglutition and articulation. Surgical repair should be planned soon after diagnosis of any structural abnormality...
BACKGROUND
The tongue is an essential organ accounted for proper deglutition and articulation. Surgical repair should be planned soon after diagnosis of any structural abnormality to prevent later speech and swallowing disorders. The lobulated tongue could be isolated (sporadic) or in association with other disorders. Pierre Robin Sequence (PRS) consists of the clinical trial of congenital micrognathia, glossoptosis, and airway obstruction with variable inclusion of a cleft palate. We present the case of a rare congenital tri-lobed tongue with Pierre Robin sequence and its surgical management in our hospital setting.
CASE PRESENTATION
Six-month-old boy presented with severe retrognathia, high arch, complete isolated cleft palate, and a bizarre mass in the oral cavity instead of his tongue that led to disruption of his swallowing. The mass (deformed tongue) check clearly, and the normal shape of the tongue was restored through multiple local randomized flaps. Dramatic improvement in swallowing was noticed 6 months after surgery during postoperative follow-up.
DISCUSSION
We present the case of a patient with a tri-lobed tongue with Pierre Robin sequence characterized by severe retrognathia, high arch, and complete isolated cleft palate. This seems to be the first reported case of this particular craniofacial anomaly.
CONCLUSION
The management of infants with the Pierre Robin sequence is complex, and much still needs to be learned and practiced. Congenital tri-lobed tongue with a cleft as part of the Pierre Robin sequence is a very rare malformation. Early repair of the tongue is important to assist the baby in adapting to speech and swallowing as they grow.
Topics: Male; Infant; Humans; Cleft Palate; Pierre Robin Syndrome; Retrognathia; Tongue; Airway Obstruction
PubMed: 36319614
DOI: 10.1097/SCS.0000000000009116 -
The Cleft Palate-craniofacial Journal :... Jan 2017Tongue-lip adhesion (TLA), mandibular distraction osteogenesis (MDO), and subperiosteal release of the floor of the mouth (SPRFM) are the most commonly performed... (Review)
Review
BACKGROUND
Tongue-lip adhesion (TLA), mandibular distraction osteogenesis (MDO), and subperiosteal release of the floor of the mouth (SPRFM) are the most commonly performed surgical procedures to treat severe airway obstruction in infants born with Pierre Robin sequence (PRS).
OBJECTIVES
To determine the rate of failure of each type of procedure, in terms of mortality and the need for tracheostomy, and to determine what proportion of infants have significant airway obstruction postoperatively as determined by polysomnography (PSG) and compare the data by procedure type.
METHOD
A comprehensive literature search (1981 through June 2015) was done of the National Library of Medicine database using PubMed. Extracted data included diagnosis, type of surgery, and outcome including mortality, need for postoperative tracheostomy and details of PSG. Persistence of significant airway obstruction was defined as an apnea-hypopnea index >15 events/h on PSG.
RESULTS
Both mortality rate and need for tracheostomy were low for all procedures. Many studies lacked sufficient detail to identify significant airway obstruction postoperatively. In studies with sufficient data, MDO was associated with the lowest percentage of significant airway obstruction postprocedure (3.6%) compared to 50% for infants who underwent TLA. Insufficient PSG data was available for patients who were treated with SPRFM.
CONCLUSIONS
There is a paucity of objective PSG data to definitively assess postoperative airway outcomes for PRS. MDO appears to be the most effective technique based on the available PSG data. Standardized use of PSG may lead to better identification and treatment of patients at risk for suboptimal airway outcomes postoperatively.
Topics: Airway Obstruction; Humans; Infant; Micrognathism; Osteogenesis, Distraction; Pierre Robin Syndrome; Polysomnography; Tracheostomy; Treatment Outcome
PubMed: 27414091
DOI: 10.1597/15-282 -
International Journal of Pediatric... Dec 2002Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is a rare condition first identified in 1970. The majority of cases are reported to be autosomal dominant with... (Review)
Review
Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is a rare condition first identified in 1970. The majority of cases are reported to be autosomal dominant with variable expression and penetrance. The most common clinical feature is ectodermal dysplasia. Ectrodactyly, cleft lip with or with out cleft palate and urogenital anomalies are also main clinical features of EEC syndrome. Pierre Robin (PR) sequence has the clinical findings of micro-retrognathia, retroposed tongue (glossoptosis), cleft of the secondary palate, and upper airway obstruction. Etiologically PR sequence is heterogeneous. It has been reported that less than 20% of cases are isolated, non-syndromic PR sequence. We present a case of a newborn male who was referred to our craniofacial clinic with EEC syndrome and PR sequence. This case represents a unique clinical association. We found no other reports in the literature of these two clinical entities occurring together. Upper airway obstruction of PR sequence, secondary to glossoptosis and micro-retrognathia, gives this association clinical relevance. In addition, this clinical association may represent a new gene locus associated with EEC syndrome.
Topics: Abnormalities, Multiple; Cleft Palate; Ectodermal Dysplasia; Follow-Up Studies; Humans; Infant, Newborn; Male; Myringoplasty; Pierre Robin Syndrome; Plastic Surgery Procedures; Risk Assessment; Syndactyly
PubMed: 12443822
DOI: 10.1016/s0165-5876(02)00278-1 -
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