Mandibular Measurements at the 20-Week Anatomy Ultrasound as a Prenatal Diagnostic Predictor of Pierre Robin Sequence

Background Pierre Robin Sequence (PRS) is characterized by micrognathia, glossoptosis, and upper airway obstruction. Early recognition and appropriate perinatal management is crucial for optimizing outcomes. This study aimed to evaluate 20-week fetal ultrasounds to determine if specific mandibular measurements could predict PRS diagnosis and disease severity. Methods A retrospective case-control study of 48 patients with PRS and gender-matched controls was performed. Medical records were reviewed for respiratory and surgical interventions. Three parameters to assess micrognathia were measured on mid-sagittal profile ultrasound images: frontal nasal-mental angle (FNMA), facial-maxillary angle (FMA), and alveolar overjet. Student's t-test and univariate logistic regression was performed. P ≤ 0.05 was considered statistically significant. Results Patients with PRS demonstrated a significantly smaller mean FNMA compared to the control group, 129.3 ± 8.6° and 137.4 ± 3.2°, respectively (p < 0.0001), as well as significantly smaller mean FMA, 63.2 ± 9.2° and 74.8 ± 6.1°, respectively (p < 0.0001). The PRS group also demonstrated significantly larger mean alveolar overjet compared to the control group, 3.9 ± 1.4 mm and 2.1 ± 0.9 mm, respectively (p < 0.0001). The odds of respiratory intervention increased among cases when FMA was <68°. Additionally, there was a significant difference in median overjet between patients with PRS who did and did not require respiratory intervention. Conclusions Mandibular features on the 20-week ultrasound can be measured to predict diagnosis and severity of PRS. This is an important first step to prepare for potential respiratory intervention at delivery to minimize perinatal hypoxia. Alveolar overjet, previously not described in prenatal ultrasound literature, is measurable and has utility in prenatal screening for PRS, as do FMA and FNMA.

Management and Outcome of a Neurologically Intact Infant with Pierre Robin Sequence and Dandy-Walker Variant Diagnosed with Large Hemispheric Brain Abscess – Case Report

Pierre Robin sequence (PRS) is a condition consisting of three essential components: micrognathia or retrognathia, cleft palate, and glossoptosis. It can be part of multiple congenital anomalies. We present the case and outcome of a 3-month-old clinically stable patient who has PRS with Dandy-Walker variant – which is a rare presentation in the literature – with a large right hemispheric brain abscess, treated with multiple minimally-invasive surgical drainage procedures with adjuvant antibiotics.

Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel LOXL3 Mutation

Background Pierre Robin Sequence (PRS) affects approximately 1 per 8500 to 14000 new-borns worldwide. Although the clinical entity is well defined, the pathogenesis of PRS is debated. The present study aims to understand the contribution of genomic imbalances and genetic variants in patients clinically diagnosed of PRS. Methodology A total of 7 independent patients with nonsyndromic PRS thoroughly evaluated by a medical geneticist at a tertiary care hospital, were included in the study. Blood samples were collected from these patients and their family members. Array CGH was performed on all 7 patients and their respective family members for detection of underlying cytogenetic defects. Whole exome sequencing (WES) was performed for 5 families to capture single nucleotide variants or small indels. Results Cytogenetic analyses did not detect any previously reported gross chromosomal aberrations for PRS in the patient cohort. However, copy number variations (CNVs) of size <1 Mb were detected in patients which may have implications in PRS. The present study provided evidence for the occurrence of de novo deletions at 7p14.1 locus in PRS patients: further validating the candidate loci susceptibility in oral clefts. WES data identified LOXL3 as candidate gene, carrying novel deleterious variant, which is suggestive of the role of point mutations in the pathogenesis of PRS. Conclusion The present study offered considerable insight into the contribution of cytogenetic defects and novel point mutation in the etiology of nonsyndromic PRS. Studies comprising large number of cases are required to fully elucidate the genetic mechanisms underlying the PRS phenotype.

Childhood Obstructive Sleep Apnea, What a Surgeon Should Know. Part 1: Interpreting the Polysomnography Study; Part 2: Diagnosis and Management

Obstructive sleep apnea (OSA) and disordered breathing can be common in early development with certain conditions placing children at increased risk for OSA, such as micrognathia and the Pierre Robin sequence, craniosynostosis, and tonsillar hypertrophy. A Level 1 Sleep Study evaluation is recommended in all children with suspected sleep apnea. Part 1 of this review provides a discussion of the polysomnography study and interpretation. Part 2 focuses on diagnosis and management, emphasizing conditions that are amendable to surgical intervention and the impact of intervention on post-operative sleep study outcomes.

Study on the Effect of Bilateral Mandible Distraction Osteogenesis About the Nutrition Status of Infants With Pierre-Robin Sequence

Objective: By comparing and studying the changes of food intake, weight, body length, BMI, blood albumin level and other indicators of infants with Pierre-Robin Sequence (PRS) before and after Bilateral Mandible Distraction Osteogenesis operation, to explore the effect of distraction osteogenesis on PRS patients about the improvement of nutrition status.Methods: The children with PRS who admitted to the Oral and Maxillofacial Surgery Department of Guangzhou Women and Children's Medical Center from July 2015 to December 2020 were selected. All patients accepted bilateral mandible distraction osteogenesis surgery, and the pre- and post-operative indicators were recorded, such as food intake, weight, length, blood albumin level and others. BMI was calculated based on the indicators mentioned above, and comparative statistical analysis was performed.Results: 1. All patients were fed with whole milk before the first surgery, and the average calorie per kg was 91.8 kcal/kg, significantly lower than the standard (100–150 kcal/kg), suggesting the overall nutritional intake of PRS patients is low; 2. t tests for independent samples were used to analyze the pre-operative and post-operative indicators. The WFA percentile increased from 14.16 ± 2.17 to 15.01 ± 1.85% (P = 0.0048), WFA z score increased from −2.40 ± 0.18 to −1.90 ± 0.14 after the surgery (P = 0.0010), LFA percentile increased from 20.04 ± 3.48 to 33.67 ± 4.29% (P = 0.0098), LFA z score increased from −2.09 ± 0.19 to −1.42 ± 0.23 (P = 0.0009), BMI z score increased from −1.95 ± 0.22 to −1.39 ± 0.16 (P = 0.0408), ALB raised from 37.06 ± 0.51 to 42.85 ± 0.30 g/L (P &lt; 0.001), which indicating that the physique of patients improved after the distraction osteogenesis surgery, mainly was reflected by the lifting of weight and length growth curves; the body shape also improved, indicating that the patients' nutrition status after the surgery is also improved.Conclusion: Bilateral mandible distraction osteogenesis surgery has a positive effect on the nutrition status of children with PRS. This effect is mainly reflected by the improvements of the body physical indicators after surgery.

Management of Bilateral Temporomandibular Joint Ankylosis and Class 2 Malocclusion in a Patient With Nager Syndrome

Nager syndrome is a rare hereditary syndrome characterized by severe mandibulofacial and pre-axial upper limb anomalies. Patients with Nager syndrome often exhibit syndromic Pierre-Robin sequence secondary to their hypoplastic mandible and require mandibular distraction osteogenesis to prevent dependence on a tracheostomy or gastric tube. This procedure, however, has been associated with temporomandibular joint (TMJ) ankylosis. TMJ ankylosis is a highly debilitating condition that dramatically impairs patients’ function and can result in facial asymmetry in affected children during periods of rapid facial growth. Surgical intervention is warranted in patients who fail physiotherapy; however, there is no gold standard treatment for surgically correcting TMJ ankylosis in patients with Nager syndrome. Herein, we detail the surgical management of TMJ ankylosis and class 2 malocclusion in a patient with Nager syndrome.

Treatment of children with Pierre Robin Syndrome

Introduction. Incidence of Pierre Robin sequence (PRS) according to different studies varies from 1:8500 to 1:30000 newborns. Swallowing dysfunction may lead to aspiration of food, saliva and gastric content, resulting in severe aspirational pneumonia. Obstructive sleep apnea (OSA) may be a life threatening condition for children with PRS and may cause death by asphyxia. Average mortality rate for PRS according to different studies is approximately 16 % and varies depending on several factors: number of patients in studies, severity of the condition, diagnostic methodologies and presence of associated syndromes in maxillofacial region. Mortality rate in severe PSR (especially associated PSR) is 41,4 %. Aside from high mortality, OSA contributes to the development of cardiovascular disease including pulmonary hypertension, which progresses more rapidly than in adults. OSA exacerbates existing comorbidities; in the absence of timely treatment sleep apnea leads to learning impairment and behavioral problems, developmental delay, failure to thrive. Methods. 80 children with PSR aged between 4 days and 1 year have undergone compression-distraction osteosynthesis (CDO). 48,8 % (39) of children were diagnosed with severe degree of OSAS, 35 % (28) had moderate degree, 16,3 % (13) had mild degree. Pretreatment diagnostics included standard set of examinations and specialist consultations. Special diagnostics included CT of head and neck, fiberoptic nasopharyngoscopy, examination by ENT specialist for the assessment of the degree of upper airways obstruction and exclusion of pathologies and anomalies of nasal cavity, pharynx, larynx and trachea, which also may be the cause for reduced airflow and upper airway obstruction (intubated children haven’t undergone these examinations). Photographs were taken and videos of clinical manifestations of airway obstruction during sleep were recorded. Blood gas tests were regularly taken; blood oxygenation levels were measured with a pulse oximeter. Polysomnography was performed, which allows for accurate and comprehensive evaluation of severity of OSA based on multiple parameters. Extra-cortical and external compression-distraction devices (CONMET, KLS Martin, Synthes) were used. Results. Good outcome was achieved in 90 % (72), satisfactory in 6,3 % (5) and negative in 3,8 % (3) of cases.

Quality of life and phonatory and morphological outcomes in cognitively unimpaired adolescents with Pierre Robin sequence: a cross-sectional study of 72 patients

Background Pierre Robin sequence (PRS) is a heterogeneous condition involving retro(micro)gnathia, glossoptosis and upper airway obstruction, very often with posterior cleft palate. Patients with PRS, either isolated or associated with Stickler syndrome have good intellectual prognosis. Nevertheless, the quality of life in adolescence and the phonatory and morphological outcomes are rarely analysed. We assessed the phonatory and morphological outcomes of 72 cognitively unimpaired adolescents with PRS, studied their oral (COHIP-SF19), vocal (VHI-9i) and generic quality of life (QoL; KIDSCREEN-52), and searched for determinants of these outcomes. Results Two-thirds of our adolescents retained low or moderate phonation difficulties, but risk factors were not identified. For 14%, morphological results were considered disharmonious, with no link to neonatal retrognathia severity. Only one vs two-stage surgery seemed to affect final aesthetic results. The oral QoL of these adolescents was comparable to that of control patients and was significantly better than that of children with other craniofacial malformations (COHIP-SF19 = 17.5, 15.4 and 25.7, respectively). The oral QoL of the adolescents with non-isolated PRS was significantly worse (COHIP-SF19 = 24.2) than that of control patients and close to that of children with other craniofacial malformations. The vocal QoL of the adolescents (mean [SD] VHI-9i = 7.5 [5.4]) was better than that of patients with other voice pathologies and better when phonation was good. The generic QoL of the adolescents was satisfactory but slightly lower than that of controls, especially in dimensions concerning physical well-being, relationships and autonomy. QoL results were lower for adolescents with non-isolated than isolated PRS. Only non-isolated PRS and low oral QoL affected generic QoL. Conclusion Morphological or phonatory impairments remain non-rare in adolescents with PRS but do not seem to be directly responsible for altered QoL. These adolescents, especially those with non-isolated PRS, show self-confidence and social-relation fragility. We must focus on long-term functional and psychological results for PRS patients and improve therapy protocols and follow-up, notably those affecting the oral aspects of the disease.