-
American Journal of Physiology. Cell... Sep 2021
Topics: Animals; Cell Differentiation; Cell Fusion; Disease Models, Animal; Humans; Membrane Fusion; Membrane Proteins; Mice; Mice, Knockout; Mobius Syndrome; Muscle Proteins; Muscular Diseases; Mutation, Missense; Myoblasts, Skeletal; Pierre Robin Syndrome; Protein Isoforms; Zebrafish
PubMed: 34288723
DOI: 10.1152/ajpcell.00187.2021 -
Brazilian Journal of Anesthesiology... 2023Pierre Robin Sequence (PRS) is a congenital condition characterized by micrognathia, glossoptosis, and cleft palate that presents with airway obstruction and...
Pierre Robin Sequence (PRS) is a congenital condition characterized by micrognathia, glossoptosis, and cleft palate that presents with airway obstruction and developmental delay with or without other congenital anomalies. These patients' anesthesia management is challenging because of difficult ventilation and intubation. Regional anesthesia methods should be considered for these patients on a case-by-case basis. This report presents primary use of regional anesthesia for circumcision of a 9-year-old boy with PRS.
Topics: Male; Humans; Child; Pierre Robin Syndrome; Pudendal Nerve; Airway Obstruction; Nerve Block; Anesthesia, Conduction; Cleft Palate
PubMed: 34274365
DOI: 10.1016/j.bjane.2021.06.023 -
The Cleft Palate-craniofacial Journal :... Aug 2022To investigate the early communication behaviors in infants with nonsyndromic isolated cleft palate (iCP) and Robin sequence (RS).
OBJECTIVE
To investigate the early communication behaviors in infants with nonsyndromic isolated cleft palate (iCP) and Robin sequence (RS).
DESIGN
Group comparison using parent report.
PARTICIPANTS
There were 106 participants included in this study. Two groups were selected from the UK Cleft Collective resource. Parents had completed the Language ENvironment Analysis Developmental Snapshot questionnaire when their child turned 13 months. There were 78 participants in the iCP group and 28 in the RS group.
MAIN OUTCOME MEASURE(S)
Total number of communication behaviors reported on the questionnaire. Subdomains for expressive and receptive language and social communication behaviors were also analyzed.
RESULTS
There were no statistically significant group differences. Parents of infants with RS reported fewer later communication behaviors compared to the iCP group. Infants in both groups had fewer communication behaviors compared to the normative sample. Across the whole sample, post hoc analysis revealed a significant correlation between severity of the cleft and social communication behaviors and expressive but not receptive language. Infants with a cleft of the hard and soft palate were more likely to be in the RS group (odds ratio: 7.04 [95% CI: 1.55-32.04]; = .01).
CONCLUSIONS
Both groups reported similar levels of early communication. Some divergence of more complex language skills was seen, although there were no significant group differences. A relationship with the diagnosis of a cleft of the hard or soft palate with expressive language behaviors was found. Further study into the impact of cleft severity on early speech development and the relationship with later language skills is needed along with longitudinal follow-up of this population.
Topics: Cleft Lip; Cleft Palate; Communication; Humans; Infant; Infant, Newborn; Language Development; Pierre Robin Syndrome
PubMed: 34259062
DOI: 10.1177/10556656211031877 -
Otolaryngology--head and Neck Surgery :... Apr 2022To evaluate the performance of 4-dimensional computed tomography (4D-CT) in assessing upper airway obstruction (UAO) in patients with Robin sequence (RS) and compare the...
OBJECTIVES
To evaluate the performance of 4-dimensional computed tomography (4D-CT) in assessing upper airway obstruction (UAO) in patients with Robin sequence (RS) and compare the accuracy and reliability of 4D-CT and flexible fiber-optic laryngoscopy (FFL).
STUDY DESIGN
Prospective survey of retrospective clinical data.
SETTING
Single, tertiary care pediatric hospital.
METHODS
At initial and 30-day time points, a multidisciplinary group of 11 clinicians who treat RS rated UAO severity in 32 sets of 4D-CT visualizations and FFL videos (dynamic modalities) and static CT images. Raters assessed UAO at the velopharynx and oropharynx (1 = to 5 = complete) and noted confidence levels of each rating. Intraclass correlation and Krippendorff alpha were used to assess intra- and interrater reliability, respectively. Accuracy was assessed by comparing clinician ratings with quantitative percentage constriction (QPC) ratings, calculated based on 4D-CT airway cross-sectional area. Results were compared using Wilcoxon rank-sum and signed-rank tests.
RESULTS
There was similar intrarater agreement (moderate to substantial) with 4D-CT and FFL, and both demonstrated fair interrater agreement. Both modalities underestimated UAO severity, although 4D-CT ratings were significantly more accurate, as determined by QPC similarity, than FFL (-1.06 and -1.46 vs QPC ratings, = .004). Overall confidence levels were similar for 4D-CT and FFL, but other specialists were significantly less confident in FFL ratings than were otolaryngologists (2.25 and 3.92, < .0001).
CONCLUSION
Although 4D-CT may be more accurate in assessing the degree of UAO in patients with RS, 4D-CT and FFL assessments demonstrate similar reliability. Additionally, 4D-CT may be interpreted with greater confidence by nonotolaryngologists who care for these patients.
Topics: Child; Four-Dimensional Computed Tomography; Humans; Laryngoscopy; Pierre Robin Syndrome; Prospective Studies; Reproducibility of Results; Retrospective Studies
PubMed: 34253111
DOI: 10.1177/01945998211027353 -
The Cleft Palate-craniofacial Journal :... Jul 2022To document and analyze the overall longitudinal institutional treatment experience of children with nonsyndromic Robin sequence (RS) from infancy to early adulthood.
OBJECTIVE
To document and analyze the overall longitudinal institutional treatment experience of children with nonsyndromic Robin sequence (RS) from infancy to early adulthood.
DESIGN
Retrospective longitudinal treatment review.
SETTING
A tertiary-care, referral, teaching hospital.
PATIENTS
Children with nonsyndromic RS and cleft palate (N = 117) born between December, 1985, and January, 2012.
INTERVENTIONS
Data regarding airway management, nutritional management, audiological interventions, orthodontic treatment, and surgical interventions were documented and analyzed in different growth/developmental stages. Comparative data from other international centers were collected from the literature.
RESULTS
Airway management during infancy involved prone positioning (92%), nasopharyngeal airway (6%), tracheostomy (2%), and mandibular distraction osteogenesis (1%). Feeding with nasogastric, gastrostomy, and/or gastrojejunostomy tubes was used in 44%, Haberman feeders in 53%, and Mead Johnson feeders in 3%. Gastroesophageal reflux disease was documented in 6% of the sample. During childhood and early adolescent years, pharyngeal flap surgery was carried out in 22% of the children, while 11% had secondary palatal surgery. Audiological management included the use of tympanostomy tubes in 62%, with several children needing multiple tube replacements. At least 18% were diagnosed with obstructive sleep apnea. Adenoidectomy or adenotonsillectomy was undertaken in 4%. Analysis of data pertaining to middle childhood and adolescent years showed that orthodontic treatment was conducted for most children for crowding, tooth agenesis, and skeletal and/or dental dysplasia. Orthognathic surgery frequency (<18%) was low.
CONCLUSIONS
Institutional treatment experience of children with nonsyndromic RS involves multidisciplinary care at different ages and stages of their development.
Topics: Adolescent; Adult; Child; Cleft Palate; Humans; Infant; Mandible; Osteogenesis, Distraction; Pierre Robin Syndrome; Retrospective Studies; Treatment Outcome
PubMed: 34212762
DOI: 10.1177/10556656211026477 -
Genes Jun 2021Vertebral, Cardiac, Renal and Limb Defect Syndrome (VCRL), is a very rare congenital malformation syndrome. Pathogenic variants in (3-Hydroxyanthranilate...
Vertebral, Cardiac, Renal and Limb Defect Syndrome (VCRL), is a very rare congenital malformation syndrome. Pathogenic variants in (3-Hydroxyanthranilate 3,4-dioxygenase), (NAD+ Synthetase-1) and (Kynureninase) have been identified in a handful of affected individuals. All three genes encode for enzymes essential for the NAD+ de novo synthesis pathway. Using Trio-Exome analysis and CGH array analysis in combination with long range PCR, we have identified a novel homozygous copy number variant (CNV) encompassing exon 5 of in an individual presenting with overlapping features of VCRL and Catel-Manzke Syndrome. Interestingly, only the mother, not the father carried the small deletion in a heterozygous state. High-resolution SNP array analysis subsequently delineated a maternal isodisomy of chromosome 2 (UPD2). Increased xanthurenic acid excretion in the urine confirmed the genetic diagnosis. Our findings confirm the clinical, genetic and metabolic phenotype of VCRL1, adding a novel functionally tested disease allele. We also describe the first patient with NAD+ deficiency disorder resulting from a UPD. Furthermore, we provide a comprehensive review of the current literature covering the genetic basis and pathomechanisms for VCRL and Catel-Manzke Syndrome, including possible phenotype/genotype correlations as well as genetic causes of hypoplastic left heart syndrome.
Topics: Adult; Child; Chromosomes, Human, Pair 2; Exons; Female; Gene Deletion; Hand Deformities, Congenital; Homozygote; Humans; Hydrolases; Pierre Robin Syndrome; Uniparental Disomy; Xanthurenates
PubMed: 34200361
DOI: 10.3390/genes12060879 -
Brazilian Journal of Otorhinolaryngology 2022Obstructive sleep apnea is highly prevalent in non-syndromic Pierre Robin sequence patients. Studies have found a probable relationship between obstructive sleep apnea...
INTRODUCTION
Obstructive sleep apnea is highly prevalent in non-syndromic Pierre Robin sequence patients. Studies have found a probable relationship between obstructive sleep apnea and nasal obstruction and between obstructive sleep apnea and enuresis. Assessment of the relationship between these variables in non-syndromic Pierre Robin sequence patients is scarce.
OBJECTIVE
The present study aims to evaluate the relationship between symptoms of obstructive sleep apnea, nasal obstruction and enuresis, determining the prevalence of symptoms suggestive of these conditions, in schoolchildren with non-syndromic Pierre Robin sequence, and describe the prevalence of excessive daytime sleepiness habitual snoring and voiding dysfunction symptoms associated with enuresis.
METHODS
This was a prospective analytical cross-sectional study developed at a reference center. Anthropometric measurements and a structured clinical interview were carried out in a sample of 48 patients. The instruments "sleep disorders scale in children" "nasal congestion index questionnaire" (CQ-5), and the "voiding dysfunction symptom score questionnaire" were used. Statistical analysis was performed for p < 0.05.
RESULTS
Positive "sleep disorders scale in children" scores for obstructive sleep apnea and CQ-5 for nasal obstruction were observed in 38.78% and 16.33%, respectively. Enuresis was reported in 16.33% of children, being characterized as primary in 71.43% and polysymptomatic in 55.55%; according to the "voiding dysfunction symptom score questionnaire". There was a significant relationship between nasal obstruction and obstructive sleep apnea symptoms (p < 0.05), but no significance was found between obstructive sleep apnea symptoms and enuresis, and between nasal obstruction and enuresis. The prevalence of excessive daytime sleepiness was 12.24% and of habitual snoring, 48.98%. A family history of enuresis, younger age in years and a positive "voiding dysfunction symptom score questionnaire" score were associated with a higher prevalence of enuresis (p < 0.05).
CONCLUSION
Children with non-syndromic Pierre Robin sequence are at high risk for obstructive sleep apnea symptoms and habitual snoring, with a correlation being observed between nasal obstruction and obstructive sleep apnea symptoms. In addition, the study showed that non-syndromic Pierre Robin sequence, obstructive sleep apnea and nasal obstruction symptoms were not risk factors for enuresis in these patients.
Topics: Child; Humans; Nasal Obstruction; Pierre Robin Syndrome; Cross-Sectional Studies; Prospective Studies; Sleep Wake Disorders; Sleep Apnea, Obstructive
PubMed: 34092522
DOI: 10.1016/j.bjorl.2021.05.002 -
Ultrasound in Obstetrics & Gynecology :... Feb 2022
Topics: Female; Gestational Age; Glossoptosis; Humans; Pierre Robin Syndrome; Pregnancy; Tongue; Ultrasonography, Prenatal
PubMed: 34090312
DOI: 10.1002/uog.23700 -
BMJ Case Reports May 2021Talipes equinovarus, atrial septal defect, Robin sequence and persistent left superior vena cava (TARP) syndrome is a congenital disease caused by mutations in the...
Talipes equinovarus, atrial septal defect, Robin sequence and persistent left superior vena cava (TARP) syndrome is a congenital disease caused by mutations in the RBBM10 gene. It has a low prevalence and a high rate of mortality in the neonatal stage. In this case report, we present a case of a 32-week gestational age preterm newborn with a prenatal diagnosis of intrauterine growth restriction, with a persistent left superior vena cava, interatrial communication and a horseshoe kidney. Additionally, postnatal optic nerve atrophy was diagnosed. By using exome sequencing, the pathogenic variant c.1877del; p.his626Lefus*78 was identified in the RMB10 gene. Due to a lack of reports in the medical literature, the phenotype has not fully been described. Here, we report on a patient with TARP syndrome and a previously unreported mutation, c.1877del; p.his627Leufs*78, which is predicted to generate a truncated and/or protein decay of the RBM10 transcript.
Topics: Atrophy; Clubfoot; Heart Defects, Congenital; Heart Septal Defects, Atrial; Humans; Infant, Newborn; Optic Nerve; Pierre Robin Syndrome; RNA-Binding Proteins; Vena Cava, Superior
PubMed: 34031074
DOI: 10.1136/bcr-2020-240601 -
Molecular Syndromology Apr 2021Pierre Robin syndrome/sequence (PRS) is associated with a triad of symptoms that includes micrognathia, cleft palate, and glossoptosis that may lead to respiratory... (Review)
Review
Pierre Robin syndrome/sequence (PRS) is associated with a triad of symptoms that includes micrognathia, cleft palate, and glossoptosis that may lead to respiratory obstruction. The syndrome occurs in 2 forms: nonsyndromic PRS (nsPRS), and PRS associated with other syndromes (sPRS). Studies have shown varying genetic mutations associated with both nsPRS and sPRS. The present systematic review aims to provide a comprehensive collection of published literature reporting genetic mutations in PRS. Web of Science, PubMed, and Scopus were searched using the keywords: "Pierre Robin syndrome/sequence AND gene mutation." The search resulted in 208 articles, of which 93 were excluded as they were duplicates/irrelevant. The full-text assessment led to the further exclusion of 76 articles. From the remaining 39 articles included in the review, details of 324 cases were extracted. 56% of the cases were sPRS, and 22% of the cases were associated with other malformations and the remaining were nsPRS. Genetic mutations were noted in 30.9% of the 300 cases. Based on the review, was found to be the most common gene associated with both nsPRS and sPRS. The gene mutation in sPRS was specific to the associated syndrome. Due to the lack of original studies, a quantitative analysis was not possible. Thus, future studies must focus on conducting large-scale cohort studies. Along with generating data on genetic mutation, future studies must also conduct pedigree analysis to assess potential familial inheritance, which in turn could provide valuable insights into the etiopathogenesis of PRS.
PubMed: 34012376
DOI: 10.1159/000513217