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The Kobe Journal of Medical Sciences Nov 2023The obstruction of the upper airway (UAO) in infants diagnosed with Robin Sequence (RS) is caused by micrognathia, and in severe cases, it can result in obstructive...
BACKGROUND
The obstruction of the upper airway (UAO) in infants diagnosed with Robin Sequence (RS) is caused by micrognathia, and in severe cases, it can result in obstructive sleep apnea (OSA). Mandibular distraction osteogenesis (MDO) is a secure and efficient remedy for significant UAO. However, there is insufficient data on the related cephalometric changes. Therefore, this study meticulously analyzes the mandibular cephalometric changes in infants with RS who have undergone MDO using internal devices. The aim is to gain a more comprehensive understanding of the short- and long-term impacts of distraction on the mandible.
METHODS
The study examined 73 consecutive cases of mandibular distraction osteogenesis (MDO) performed by a single surgeon. Preoperative and postoperative lateral cephalograms, as well as CT scans of the mandible, were utilized to assess population averages for both time points. A two-sample T-Test with equal variance was used for this analysis.
RESULTS
After the MDO procedure, 19 out of 21 cephalometric parameters exhibited significant morphological changes. On average, there were notable improvements of 20.3 mm (60.7%) in length, 9.8 mm (49.7%) in height, 12.6 mm (36.1%) in width, and 211% in airway parameters. However, most parameters showed only mild regression at the time of device removal and 6 to 12 months post-MDO. Nonetheless, the cephalometric parameters remained significantly improved compared to the preoperative measurements.
CONCLUSIONS
The use of cephalometric measurement is a potent approach that provides a clear and measurable understanding of how MDO influences both immediate and long-term growth of the mandible. This quantitative assessment of the effects of mandibular distraction allows for the refinement of surgical techniques and the optimization of outcomes. Therefore, incorporating cephalometric measurements in the evaluation of patients undergoing MDO can lead to better surgical planning and more favorable results.
Topics: Humans; Infant; Pierre Robin Syndrome; Osteogenesis, Distraction; Retrospective Studies; Treatment Outcome; Mandible
PubMed: 38018222
DOI: 10.24546/0100485259 -
Biomimetics (Basel, Switzerland) Nov 2023The Robin sequence is a congenital anomaly characterized by a triad of features: micrognathia, glossoptosis, and airway obstruction. This comprehensive historical review... (Review)
Review
The Robin sequence is a congenital anomaly characterized by a triad of features: micrognathia, glossoptosis, and airway obstruction. This comprehensive historical review maps the evolution of approaches and appliances for its treatment from the past to the current modern possibilities of an interdisciplinary combination of modern engineering, medicine, materials, and computer science combined approach with emphasis on designing appliances inspired by nature and individual human anatomy. Current biomimetic designs are clinically applied, resulting in appliances that are more efficient, comfortable, sustainable, and safer than legacy traditional designs. This review maps the treatment modalities that have been used for patients with a Robin sequence over the years. Early management of the Robin sequence focused primarily on airway maintenance and feeding support, while current management strategies involve both nonsurgical and surgical interventions and biomimetic biocompatible personalized appliances. The goal of this paper was to provide a review of the evolution of management strategies for patients with the Robin sequence that led to the current interdisciplinary biomimetic approaches impacting the future of Robin Sequence treatment with biomimetics at the forefront.
PubMed: 37999177
DOI: 10.3390/biomimetics8070536 -
Indian Journal of Otolaryngology and... Dec 2023Certain congenital craniofacial malformations can cause upper airway obstruction. Due to neurological involvement, these craniofacial deformities with upper airway...
UNLABELLED
Certain congenital craniofacial malformations can cause upper airway obstruction. Due to neurological involvement, these craniofacial deformities with upper airway blockage frequently require tracheostomy. Children who need weeks or months of continuous ventilator assistance require tracheostomies, which improve pulmonary toilet and decrease laryngotracheal lesions such subglottic stenosis and tracheomalacia. In this case report we will be discussing about two patients who underwent Pediatric tracheostomy for Pierre Robin sequence and supraglottic stenosis in our institute. This paper emphasizes on some of the rare causes of pediatric upper airway obstruction - Pierre Robin sequence and supraglottic stenosis. Also the importance of tracheostomy procedure, which is the gold standard for management of upper airway obstruction in patients who are not responding to conservative management is emphasized.
SUPPLEMENTARY INFORMATION
The online version contains supplementary material available at 10.1007/s12070-023-03892-1.
PubMed: 37974804
DOI: 10.1007/s12070-023-03892-1 -
The Journal of Craniofacial SurgeryRobin sequence (RS) is a congenital clinical condition characterized by micrognathia, glossoptosis, and respiratory distress. Conservative methods could be responsible...
INTRODUCTION
Robin sequence (RS) is a congenital clinical condition characterized by micrognathia, glossoptosis, and respiratory distress. Conservative methods could be responsible for releasing feeding and respiratory impairment but little information about mandibular growth is known in long-term follow-up.
OBJECTIVE
Assessing the longitudinal behavior of the facial profile of individuals with isolated RS who underwent conservative micrognathia treatment using photographs during the whole craniofacial growth.
METHODS
Photographs of the right facial profile of 100 patients were used (50 individuals with isolated RS and 50 individuals without craniofacial anomaly). The individuals with RS were evaluated at 3 different times (T1: infant, T2: mixed dentition, T3: permanent dentition) by measuring the facial convexity angle (FCA; G.Sn.Pog´). A comparison between T3 and control group (C), individuals without craniofacial anomalies and in permanent dentition, was also performed, checking the FCA, nasolabial angle (Ls.Sn.Cm), mentolabial fold (Li.Si.Pog´), facial inferior third (Sn.Gn´.C) angles and the ratio between middle anterior facial height and lower anterior facial height.
RESULTS
The T3 group showed an increased angle of facial convexity and increased facial inferior third angle and middle anterior facial height/lower anterior facial height ratio compared with the control group. In the longitudinal evaluation of individuals with isolated RS, significant differences were identified between T1 and T2 groups and T1 and T3 groups showing that the increased facial convexity was higher in the infants and that did not change significantly between the phases of mixed and permanent dentition.
CONCLUSIONS
RS showed increased facial convexity in all phases evaluated, but their convexity decreased with growth. When compared with individuals without craniofacial anomalies, the individuals continue to exhibit retrognathism in the permanent dentition. The lack of a mandible projection has led to a considerable number of orthognathic surgeries for the correction of discrepancies.
Topics: Infant; Humans; Pierre Robin Syndrome; Micrognathism; Cephalometry; Follow-Up Studies; Mandible
PubMed: 37934950
DOI: 10.1097/SCS.0000000000009749 -
European Journal of Human Genetics :... Jan 2024ATP2B1 encodes plasma membrane calcium-transporting-ATPase1 and plays an essential role in maintaining intracellular calcium homeostasis that regulates diverse signaling...
ATP2B1 encodes plasma membrane calcium-transporting-ATPase1 and plays an essential role in maintaining intracellular calcium homeostasis that regulates diverse signaling pathways. Heterozygous de novo missense and truncating ATP2B1 variants are associated with a neurodevelopmental phenotype of variable expressivity. We describe a proband with distinctive craniofacial gestalt, Pierre-Robin sequence, neurodevelopmental and growth deficit, periventricular heterotopia, brachymesophalangy, cutaneous syndactyly, and persistent hypocalcemia from primary hypoparathyroidism. Proband-parent trio exome sequencing identified compound heterozygous ATP2B1 variants: a maternally inherited splice-site (c.3060+2 T > G) and paternally inherited missense c.2938 G > T; p.(Val980Leu). Reverse-transcription-PCR on the proband's fibroblast-derived mRNA showed aberrantly spliced ATP2B1 transcripts targeted for nonsense-mediated decay. All correctly-spliced ATP2B1 mRNA encoding p.(Val980Leu) functionally causes decreased cellular Ca extrusion. Immunoblotting showed reduced fibroblast ATP2B1. We conclude that biallelic ATP2B1 variants are the likely cause of the proband's phenotype, strengthening the association of ATP2B1 as a neurodevelopmental gene and expanding the phenotypic characterization of a biallelic loss-of-function genotype.
Topics: Humans; Calcium; Phenotype; Genotype; RNA, Messenger; Hypoparathyroidism; Plasma Membrane Calcium-Transporting ATPases
PubMed: 37926713
DOI: 10.1038/s41431-023-01484-9 -
Heliyon Oct 2023Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare disease characterized by appearance of premature aging, including the skin, bones, heart, and blood...
An infant with congenital micrognathia and upper airway obstruction was diagnosed as Hutchinson-Gilford progeria syndrome caused by a novel LMNA mutation: Case report and literature review.
Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare disease characterized by appearance of premature aging, including the skin, bones, heart, and blood vessels caused by LMNA mutation. In this study, the patient presented with congenital micrognathia and progressively aggravated upper airway obstruction as the initial symptom, which required bilateral mandibular distraction osteogenesis (MDO) surgery intervention. This was not commonly described in the literature, and the primary clinical diagnosis of Pierre Robin sequence (PRS) was made. However, other clinical features included sclerotic skin, dry skin, growth failure, lipoatrophy, joint stiffness, prominent scalp veins, small ear lobes, hair loss, and craniofacial disproportion gradually emerged, the diagnosis of HGPS was preferred when the patient was 5 months old. The genetic testing result with a novel and de novo LMNA mutation (c.1968 + 3_1968+6delGAGT) further confirmed the diagnosis and expanded the clinical and mutational spectrum of HGPS. During the 12-month follow-up period after surgery, the patient no longer suffered dyspnea. Complications of other organs and systems have not happened at the moment. In addition, the pathogenesis, the role of LMNA gene mutation, the progress in clinical treatment, and breakthrough studies about genetic treatment in animals of HGPS are described in the literature review.
PubMed: 37916118
DOI: 10.1016/j.heliyon.2023.e20857 -
The Cleft Palate-craniofacial Journal :... Nov 2023Mandibular distraction osteogenesis (MDO) may improve airway grade in patients with Robin Sequence (RS), but little is known about the response of the oropharyngeal...
PURPOSE
Mandibular distraction osteogenesis (MDO) may improve airway grade in patients with Robin Sequence (RS), but little is known about the response of the oropharyngeal airway to the distraction process in cases of tongue base obstruction (TBAO). This study used drug-induced sleep endoscopy (DISE) to evaluate the impact of MDO on the oropharynx.
METHODS
RS patients with severe obstructive sleep apnea (OSA) were prospectively enrolled, and underwent DISE prior to MDO, and at the time of distractor removal. Laryngoscopy views, glossoptosis degree, polysomnography (PSG) results, oxygen saturations and airway measurements were compared pre- and post-MDO.
RESULTS
Twenty patients met inclusion criteria. At the time of distractor placement, a grade II laryngoscopic view was most frequently observed (63%), and one patient (5%) had a grade I view. Median obstructive apnea hypopnea index (OAHI) improved after MDO (49.1 [30.2-74.0] to 9.1, [3.9-18.0], ≤ .001). Median oxygen saturation nadir also improved (preoperative 69% [60-76] to 85% [82-91], ≤ .001). At distractor removal, mean laryngoscopic view improved (≤ .002) with no views that were grade 3 or higher. Median intraoperative oropharyngeal width improved, (3.1 mm [2.8-4.4] to 6.0 mm [4.4-6.8], ≤ .021), as did median cephalometric anteroposterior oropharyngeal width (3.5 mm [2.7-4.1] to 6.3 mm [5.6-8.2], ≤ .002).
CONCLUSION
Following MDO, RS patients with TBAO have an approximate doubling of oropharyngeal width and an improvement in laryngoscopic grade. These findings likely contribute to improved oxygenation, OAHI and ease of intubation.
PubMed: 37915226
DOI: 10.1177/10556656231204517 -
Children (Basel, Switzerland) Sep 2023The Tübingen Palatal Plate (TPP) is a minimally invasive yet highly effective functional orthodontic treatment for upper airway obstruction in infants with Robin... (Review)
Review
The Tübingen Palatal Plate (TPP) is a minimally invasive yet highly effective functional orthodontic treatment for upper airway obstruction in infants with Robin Sequence (RS). It consists of a palatal plate to cover the cleft and a velar extension that shifts the root of the tongue forward. We review our practical experience with this approach. First, upon admission, our local orthodontists perform an (3-D) intraoral scan of the maxilla. Based on the scan data, the TPP is manufactured in a semi-digital workflow. The length and angulation of its extension is checked via awake laryngoscopy and the effectiveness confirmed by a sleep study. Plates are kept in place by adhesive cream. When inserting the TPP, the tip of the tongue must be visible. Next, metal fixation bows should be secured to the forehead using tape and elastic bands. Plates are removed daily for cleaning, and the oral mucosa is then checked for pressure marks. Feeding training (initially only via finger feeding) may even start before plate insertion. Breathing often normalizes immediately once the plate is inserted. For isolated RS, we have never had to perform a tracheostomy. This has largely been possible through our highly dedicated and competent team, particularly the nursing staff, and the early involvement of parents.
PubMed: 37892291
DOI: 10.3390/children10101628 -
Journal of Cranio-maxillo-facial... Jan 2024The study aimed to evaluate the mid-term effect of MDO in children with Robin sequence (RS). In this case series, 13 patients with RS who underwent MDO were followed up...
The study aimed to evaluate the mid-term effect of MDO in children with Robin sequence (RS). In this case series, 13 patients with RS who underwent MDO were followed up for more than 5 years. Data were collected using clinical history and physical examination. Polysomnography was performed and endoscopic evaluations of the airway was performed if patients still presented obstructive signs of upper airways and/or dysphagia. The patients' clinical signs improved in the mid-term after versus before MDO (inspiratory noise, 92,3% vs 30,8%; apnea, 84,6% vs 7,7%; cyanosis, 76,9% vs 0%; desaturations, 69,2% vs 0%; and suprasternal/intercostal retractions, 61,5% vs 0%; p < 0.05). Statistically significant improvement was noted in the following polysomnographic parameters evaluated in the pre and postoperative mid-term: apnea-hypopnea index, total sleep time and desaturation index (p < 0.05). Within the limitations of the study it seems that MDO is an effective surgical option for children with RS, not only in the short term as previously demonstrated, but also in the mid-term.
Topics: Child; Humans; Infant; Polysomnography; Retrospective Studies; Pierre Robin Syndrome; Osteogenesis, Distraction; Apnea; Treatment Outcome; Mandible; Airway Obstruction
PubMed: 37884434
DOI: 10.1016/j.jcms.2023.08.004 -
The Laryngoscope Apr 2024The primary aim of this study is to describe a novel surgical technique developed for tongue base suspension (TBS). The second aim of this study is to assess the...
OBJECTIVES
The primary aim of this study is to describe a novel surgical technique developed for tongue base suspension (TBS). The second aim of this study is to assess the efficacy of the developed procedure by quantifying preoperative and postoperative polysomnographic outcomes for pediatric patients undergoing fluoroscopic-assisted tongue suspension (FATS) with the Encore System. Our hypothesis is that our FATS technique will provide at least a 50% reduction in the Apnea/Hypopnea Index (AHI), including in the medically complex pediatric population.
STUDY DESIGN
Retrospective case series.
METHODS
An electronic medical record review was conducted of patients who underwent FATS by a single surgeon at a tertiary care medical center between December 2019 and June 2022. Inclusion criteria included all patients <18 years old with evidence of OSA or sleep-disordered breathing and who had glossoptosis on sleep endoscopy. Data extracted from the medical record included age, gender, medical comorbidity history, reason for referral, history of airway surgeries, length of hospital stay, surgical complications data, and preoperative and postoperative polysomnographic data. Surgical success was defined by at least a 50% reduction in AHI.
RESULTS
Thirty patients (53.3% male) with a mean age of 6.3 (±5.3, 0.16-17) years underwent FATS over the study period. Most patients (93%) had an underlying comorbidity: cerebral palsy (37%), chromosomal abnormalities (23%), Down syndrome (13%), Pierre-Robin sequence (10%), and obesity (10%). The majority of patients (77%) were explicitly referred for tracheostomy placement secondary to failed management of OSA. 21 patients completed both preoperative and postoperative polysomnograms. The mean preoperative AHI, obstructive AHI (oAHI), and respiratory disturbance index (RDI) were 28.8 (±19.8), 30.8 (±19.6), and 30.5 (±19.3), respectively. The mean postoperative AHI, oAHI, and RDI were 7.3 (±9.2), 7.5 (±9.1), and 7.9 (±9.3), respectively. The mean change in AHI was -21.5 (±21.4) events/h (p < 0.01, 95% CI -29.0 to -11.4 events/h). The mean percentage decrease in AHI was 74.7%. The mean change in oAHI and RDI were -23.3 (±21.9) events/h (p < 0.01 95% CI- 39.9 to -21.4 events/h) and -22.5 (±21.5) events/h (p < 0.01, 95% CI- 31.5 to -12.4 events/h), respectively. The mean percentage decrease in oAHI and RDI was 75.6% and 73.8%, respectively. Surgical success occurred in 16 of the 21 (76%) patients. Of the 23 patients referred explicitly for tracheostomy placement, 21 (91%) were able to avoid tracheostomy placement secondary to improvements in OSA.
CONCLUSIONS
Patients undergoing fluoroscopic-assisted TBS revealed statistically significant improvements in AHI, oAHI, and RDI, with an overall surgical success rate of 76%. Complication rates were minimal, despite the complex nature of the study population. FATS should be considered a viable surgical approach in pediatric patients with an identified base of tongue obstruction and OSA.
LEVEL OF EVIDENCE
4 Laryngoscope, 134:S1-S9, 2024.
Topics: Humans; Child; Male; Adolescent; Female; Retrospective Studies; Sleep Apnea, Obstructive; Tongue; Fluoroscopy; Endoscopy
PubMed: 37823584
DOI: 10.1002/lary.31107