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The Journal of Craniofacial Surgery May 2021This cohort study aimed to assess how age at repair affects outcomes in nonsyndromic patients with and without Robin Sequence using a national database of commercial...
BACKGROUND
This cohort study aimed to assess how age at repair affects outcomes in nonsyndromic patients with and without Robin Sequence using a national database of commercial healthcare claims.
METHODS
Children under 4 years of age undergoing palatoplasty were identified in the IBM MarketScan Commercial Database based on ICD-9-CM and CPT procedure codes. They were divided into Robin and non-Robin cleft palate groups, and further divided by time of initial cleft palate repair: Robin Sequence into 2 groups: age ≤10 months or >10 months; non-Robin cleft palate into 3 groups: age ≤10 months, >10-14 months, or >14 months age. Time to cleft palate revision within each group was assessed using Cox proportional-hazard models.
RESULTS
A total of 261 patients with Robin Sequence and 3046 with non-Robin cleft palate were identified. In patients with Robin, later repair was associated with decreased risk of secondary procedures compared with early repair (Hazard Ratio (HR) 0.19, 95%CI 0.09-0.39, P < 0.001). In patients with non-Robin cleft palate, decreased risk of revision compared to early repair was associated both with repair at >10-14 months (adjusted HR 0.40, 95%CI 0.31-0.52, P < 0.001) and > 14 months (adjusted HR 0.71, 95%CI 0.57-0.88, P = 0.002). Adjusting for timing of repair, patients with non-Robin cleft palate were at significantly increased risk of secondary procedure if diagnosed with failure to thrive or anemia in the 30 days prior to palatoplasty.
CONCLUSIONS
In patients with and without Robin sequence, cleft palate repair at or before 10 months of age was associated with higher risk for secondary procedures.
Topics: Child; Child, Preschool; Cleft Palate; Cohort Studies; Humans; Infant; Pierre Robin Syndrome; Retrospective Studies; Treatment Outcome
PubMed: 33290333
DOI: 10.1097/SCS.0000000000007311 -
Frontiers in Pediatrics 2022The aim of the study was to report our experience with placed allogenic acellular bone matrix and mandibular distraction osteogenesis in Pierre Robin sequence (PRS), and...
OBJECTIVE
The aim of the study was to report our experience with placed allogenic acellular bone matrix and mandibular distraction osteogenesis in Pierre Robin sequence (PRS), and explore the role of distraction in the osteogenesis of acellular bone.
MATERIALS AND METHODS
A total of 428 neonates with severe PRS managed with placing allogenic acellular bone and bilateral mandibular distraction osteogenesis were included in the study. The procedure included using oblique-shaped osteotomy, fixing bilateral mandibular distractor, instantly extending a 4-6 mm gap, and placing allogenic acellular bone into the gap. The length of allogenic acellular bone was 4-5 mm. Although the surgical techniques, distraction, and consolidation periods were similar, the allogenic acellular bone matrix we placed was quite different from the traditional distraction. With the technology we used, tracheal intubation could be immediately removed, thus quickly improving breathing conditions compared to traditional methods after the surgery. The jaw extending and oral feeding could begin on the 5th day. The jaw was extended 0.6 mm twice a day until the mandible was overcorrected by 20%.
RESULTS
All 428 cases included in this study were successfully extubated after the operation, and the difficulty in breathing was instantly relieved. Total mandibular distraction was 15-20 mm. Oral feeding was started at 6 h to 6 days postoperatively, while hospital stay ranged from 18 to 20 days postoperatively. No major complications were reported. Medium to long-term results was good. Mandibular distractors were removed after 3 months.
CONCLUSIONS
Bilateral mandibular distraction osteogenesis combined with placing allogenic acellular bone in the neonate are safe and accurate procedures, which are the primary treatment options for cases of severe PRS. It can be considered that the tension of distraction can promote osteogenesis in acellular bone and thus improve distractive effect of the mandible.
PubMed: 35676894
DOI: 10.3389/fped.2022.890156 -
Clinical Oral Investigations Jul 2017In addition to breathing problems, patients with Robin sequence (RS) often encounter feeding difficulties (FD). Data regarding the occurrence of FD and possible... (Review)
Review
OBJECTIVES
In addition to breathing problems, patients with Robin sequence (RS) often encounter feeding difficulties (FD). Data regarding the occurrence of FD and possible influencing factors are scarce. The study aim was to elucidate these factors to improve treatment strategies.
MATERIAL AND METHODS
A retrospective comparative cohort study was conducted, consisting of 69 infants diagnosed with both RS and a cleft palate and 64 isolated cleft palate only (iCPO) infants. Data regarding FD, growth, and airway intervention were collected during the first 2 years of life. A systematic review of the literature was conducted to identify reported FD in RS patients.
RESULTS
RS patients had more FD (91 %) than iCPO patients (72 %; p = 0.004). Also, nasogastric (NG)-tube feeding was necessary more frequently and for a longer period (both p < 0.001). Growth was lower in RS than iCPO infants (p = 0.008) and was not affected by the kind of airway management (conservative/surgical; p = 0.178), cleft palate grade (p = 0.308), or associated disorders (p = 0.785). By contrast, surgical intervention subtype did significantly affect growth. Mean reported FD for RS in the literature is 80 % (range = 47-100 %), and 55 % (range = 11-100 %) of infants need NG-tube feeding.
CONCLUSIONS
FD is present in a large proportion of infants with RS, which indicates the need for early recognition and proper treatment to ensure optimal growth. Growth during the first 2 years of life is significantly lower in RS patients than iCPO patients, which indicates the need for careful attention and long-term follow-up.
CLINICAL RELEVANCE
This study indicates the need for early recognition and proper treatment of FD in RS to ensure optimal growth. In addition, growth needs careful attention and long-term follow-up.
Topics: Child Development; Cleft Lip; Cleft Palate; Feeding and Eating Disorders; Female; Humans; Infant; Male; Pierre Robin Syndrome; Retrospective Studies
PubMed: 27868158
DOI: 10.1007/s00784-016-1996-8 -
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 -
Fetal Diagnosis and Therapy 2016Fetal ultrasonography is an important tool used to prenatally diagnose many craniofacial conditions. Pierre Robin sequence (PRS) is a rare congenital deformation... (Review)
Review
Fetal ultrasonography is an important tool used to prenatally diagnose many craniofacial conditions. Pierre Robin sequence (PRS) is a rare congenital deformation characterized by micrognathia, glossoptosis, and airway obstruction. PRS can present as a perinatal emergency when the retropositioned tongue obstructs the airway leading to respiratory compromise. More predictable and reliable diagnostic studies could help the treating medical team as well as families prepare for these early airway emergencies. The medical literature was reviewed for different techniques used to prenatally diagnose PRS radiologically. We have reviewed these techniques and suggested a possible diagnostic pathway to consistently identify patients with PRS prenatally.
Topics: Diagnosis, Differential; Female; Glossoptosis; Humans; Micrognathism; Pierre Robin Syndrome; Polyhydramnios; Pregnancy; Ultrasonography, Prenatal
PubMed: 25967128
DOI: 10.1159/000380948 -
Journal of Cellular Biochemistry May 2018RBM10 is an RNA binding motif (RBM) protein expressed in most, if not all, human and animal cells. Interest in RBM10 is rapidly increasing and its clinical importance is... (Review)
Review
RBM10 is an RNA binding motif (RBM) protein expressed in most, if not all, human and animal cells. Interest in RBM10 is rapidly increasing and its clinical importance is highlighted by its identification as the causative agent of TARP syndrome, a developmental condition that significantly impacts affected children. RBM10's cellular functions are beginning to be explored, with initial studies demonstrating a tumor suppressor role. Very recently, however, contradictory results have emerged, suggesting a tumor promoter role for RBM10. In this review, we describe the current state of knowledge on RBM10, and address this dichotomy in RBM10 function. Furthermore, we discuss what may be regulating RBM10 function, particularly the importance of RBM10 alternative splicing, and the relationship between RBM10 and its paralogue, RBM5. As RBM10-related work is gaining momentum, it is critical that the various aspects of RBM10 molecular biology revealed by recent studies be considered moving forward. It is only if these recent advances in RBM10 structure and function are considered that a clearer insight into RBM10 function, and the disease states with which RBM10 mutation is associated, will be gained.
Topics: Alternative Splicing; Animals; Clubfoot; Heart Defects, Congenital; Humans; Mutation; Pierre Robin Syndrome; RNA-Binding Proteins; Structure-Activity Relationship
PubMed: 29274279
DOI: 10.1002/jcb.26644 -
Children (Basel, Switzerland) May 2023Sleep is a fundamental biological necessity, the lack of which has severe repercussions on the mental and physical well-being in individuals of all ages. The phrase... (Review)
Review
Sleep is a fundamental biological necessity, the lack of which has severe repercussions on the mental and physical well-being in individuals of all ages. The phrase "sleep-disordered breathing (SDB)" indicates a wide array of conditions characterized by snoring and/or respiratory distress due to increased upper airway resistance and pharyngeal collapsibility; these range from primary snoring to obstructive sleep apnea (OSA) and occur in all age groups. In the general pediatric population, the prevalence of OSA varies between 2% and 5%, but in some particular clinical conditions, it can be much higher. While adenotonsillar hypertrophy ("classic phenotype") is the main cause of OSA in preschool age (3-5 years), obesity ("adult phenotype") is the most common cause in adolescence. There is also a "congenital-structural" phenotype that is characterized by a high prevalence of OSA, appearing from the earliest ages of life, supported by morpho-structural abnormalities or craniofacial changes and associated with genetic syndromes such as Pierre Robin syndrome, Prader-Willi, achondroplasia, and Down syndrome. Neuromuscular disorders and lysosomal storage disorders are also frequently accompanied by a high prevalence of OSA in all life ages. Early recognition and proper treatment are crucial to avoid major neuro-cognitive, cardiovascular, and metabolic morbidities.
PubMed: 37371187
DOI: 10.3390/children10060955 -
Advances in Clinical and Experimental... 2016Cleft lips, alveolar ridges and palates are among the most common birth defects. There are over 500 different complex genetic disorders that include cleft defects. The... (Review)
Review
Cleft lips, alveolar ridges and palates are among the most common birth defects. There are over 500 different complex genetic disorders that include cleft defects. The most common related defects include abnormalities of the skeleton, skull, cardiovascular and nervous system. The occurrence of a cleft results from the interplay of multiple genes and environmental factors. Several thousand different mutations responsible for these syndromes have been discovered, whereas there are still numerous phenotypic cases of unknown genetic origin. The aim of this study was to present various clinical aspects and the latest discoveries with regard to genetic research in complex malformations, such as Van der Woude syndrome, popliteal pterygium syndrome, EEC syndrome, Pierre Robin sequence, various forms of Stickler syndrome, and Treacher Collins syndrome. These complex syndromes have different incidences, and most of them also have allelic variants with characteristic severities that differ even among close relatives. Easier access to genetic counseling and the lower cost of DNA testing in recent years can lead to new findings on the causes of such syndromes.
Topics: Abnormalities, Multiple; Cleft Lip; Genetic Predisposition to Disease; Humans
PubMed: 28028964
DOI: 10.17219/acem/61911 -
Plastic Surgery (Oakville, Ont.) Feb 2017Pierre Robin sequence (PRS) is a triad of micrognathia, glossoptosis, and respiratory distress. There is no standard clinical classification used in the management of...
BACKGROUND
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.
METHODS
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.
RESULTS
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.
CONCLUSION
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.
PubMed: 29026807
DOI: 10.1177/2292550317693814 -
European Respiratory Review : An... Dec 2023Robin sequence (RS), a congenital disorder of jaw maldevelopment and glossoptosis, poses a substantial healthcare burden and has long-term health implications if airway... (Meta-Analysis)
Meta-Analysis Review
Robin sequence (RS), a congenital disorder of jaw maldevelopment and glossoptosis, poses a substantial healthcare burden and has long-term health implications if airway obstruction is suboptimally treated. This study describes the global birth prevalence of RS and investigates whether prevalence estimates differ by geographical location, ethnicity or study data source (registry non-registry data). The protocol was prospectively registered with PROSPERO.Databases were searched using keywords and subject terms for "Robin sequence", "epidemiology", "incidence" and "birth prevalence". Meta-analysis was performed fitting random effects models with arcsine transformation.From 34 eligible studies (n=2722 RS cases), pooled birth prevalence was 9.5 per 100 000 live births (95% CI 7.1-12.1) with statistical heterogeneity. One third of studies provided a case definition for RS and numerous definitions were used. A total of 22 countries were represented, predominantly from European populations (53% of studies). There was a trend towards higher birth prevalence in European populations and lower prevalence from registry-based studies. Only two studies reported ethnicity.This study indicates that RS occurs globally. To investigate geographical differences in prevalence, additional studies from non-European populations and reporting of ethnicity are needed. Heterogeneity of estimates may be due to variable diagnostic criteria and ascertainment methods. Recently published consensus diagnostic criteria may reduce heterogeneity among future studies.
Topics: Infant; Humans; Pierre Robin Syndrome; Prevalence; Incidence; Registries; Consensus
PubMed: 38056889
DOI: 10.1183/16000617.0133-2023