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International Journal of Oral and... Apr 2023The aims of this cohort study were to compare the mandibular morphology between patients with Robin sequence (RS) and controls, and to examine the effects of mandibular...
The aims of this cohort study were to compare the mandibular morphology between patients with Robin sequence (RS) and controls, and to examine the effects of mandibular distraction osteogenesis (MDO) using different vectors. Measurements of the mandibles of 80 patients with RS and 46 controls aged< 90 days were made using computed tomography. The data were compared among isolated RS patients (n = 58), syndromic RS patients (n = 22), and controls. Patients with RS exhibited significantly shorter ramus and body lengths and larger symphyseal angles than controls (all P < 0.001). Patients with isolated RS had shorter body lengths (P < 0.001), while syndromic patients had shorter ramus and body lengths (both P < 0.001) than controls. Seventy RS patients underwent MDO. Pre-MDO (n = 37) and post-MDO (n = 29) mandibular measurements were compared between patients undergoing MDO with a vertical vector and those undergoing MDO with a horizontal vector. Polysomnography data from part of the cohort highlighted the effectiveness of both vectors. MDO with a horizontal vector conferred 11% and 36% increases in ramus and body length, respectively, while these increases were 34% and 27.5%, respectively, with a vertical vector. MDO with a vertical vector was effective in lengthening ramus and body components and should be considered in the presence of ramus hypoplasia.
Topics: Humans; Infant; Cohort Studies; Retrospective Studies; Pierre Robin Syndrome; Osteogenesis, Distraction; Mandible; Polymers; Treatment Outcome; Airway Obstruction
PubMed: 35985910
DOI: 10.1016/j.ijom.2022.07.007 -
Sleep May 2023To investigate neurocognitive and behavioral outcomes at primary school age in relation to obstructive sleep apnea (OSA) in children with Robin sequence (RS) treated...
STUDY OBJECTIVES
To investigate neurocognitive and behavioral outcomes at primary school age in relation to obstructive sleep apnea (OSA) in children with Robin sequence (RS) treated with the Tuebingen palatal plate in infancy and to assess the impact of OSA in these patients.
METHODS
Forty-two primary school-aged children (n = 21 with RS, n = 21 age- and sex-matched controls) underwent polysomnography, intelligence testing ("Wechsler Intelligence Scale for Children-Fifth Edition" [WISC-V]), and anthropometrics. Families completed a 7-day sleep diary and questionnaires on sleep and behavior (Children's Sleep Habits Questionnaire [CSHQ] and the Child Behavior Checklist [CBCL]).
RESULTS
In children with RS (17 non-syndromic, four syndromic; median age 9.7 [8.5-10.8] years), the obstructive apnea-hypopnea index (OAHI) was significantly higher than in controls (1.3 [0.4-2.7]/h vs. 0.4 [0.1-0.6]/h). Two syndromic children with RS were already on nocturnal respiratory support for OSA prior to our study, and one non-syndromic child was diagnosed with severe OSA (OAHI 57/h) despite an unremarkable medical history and questionnaire. The overall intelligence quotient in children with RS was within the normal range and did not differ between children with RS and healthy peers (102 vs. 108, p = .05). However, children with RS had values in the at-risk clinical range for externalizing behavior.
CONCLUSIONS
These children with RS showed an increased risk of OSA and behavioral problems, suggesting regular screening for OSA throughout childhood. Neurocognitive scores in children with RS were within the normal range after adequate treatment of OSA during infancy.
Topics: Child; Female; Humans; Male; Anthropometry; Child Behavior; Internal-External Control; Pierre Robin Syndrome; Polysomnography; Sleep; Sleep Apnea, Obstructive; Surveys and Questionnaires; Wechsler Scales; Infant; Bone Plates; Cross-Sectional Studies; Cognition; Self Report; Checklist
PubMed: 36566505
DOI: 10.1093/sleep/zsac317 -
The Cleft Palate-craniofacial Journal :... Aug 2023Mandibular distraction osteogenesis (MDO) and continuous positive airway pressure (CPAP) may each have a role in effectively treating tongue-based airway obstruction...
Mandibular distraction osteogenesis (MDO) and continuous positive airway pressure (CPAP) may each have a role in effectively treating tongue-based airway obstruction (TBAO) in Robin sequence (RS). This study describes longitudinal outcomes after treatment of TBAO with CPAP and/or MDO. Retrospective cohort study. Tertiary Pediatric Hospital. A total of 129 patients with RS treated with CPAP and/or MDO from 2009 to 2019 were reviewed. Subjects receiving baseline and at least one follow-up polysomnogram were included. 55 who underwent MDO ± CPAP and 9 who received CPAP-only treatment were included. Patient characteristics, feeding, and polysomnographic data were compared and generalized linear mixed modeling performed. Baseline obstructive apnea-hypopnea index (OAHI) was greater in the MDO-treated group (median x˜ = 33.7 [interquartile range: 26.5-54.5] than the CPAP-treated group (x˜ = 20.3[13.3-36.7], ≤ .033). There was significant reduction in OAHI following treatment with CPAP and MDO modalities, ≤ .001. SpO nadir after MDO was lower in syndromic (x˜ = 85.0[81.0-87.9] compared to nonsyndromic patients (x˜ = 88.4[86.8-90.5], ≤ .005.) CPAP was utilized following MDO in 2/24 (8.3%) of nonsyndromic and 16/31 (51.6%) of syndromic subjects ( ≤ .001,) for a median duration of 414 days. Three patients (5%) underwent tracheostomy, all had MDO. Nasogastric tube feeding at hospital discharge was more common following MDO (44, 80%) than CPAP-only (4, 44.4%, ≤ .036), but did not differ at 6-month follow-up ( ≥ .376). CPAP appears to effectively reduce obstructive apnea in patients with RS and moderate TBAO and be a useful adjunct in syndromic patients following MDO with improved but persistent obstruction.
Topics: Humans; Child; Infant; Retrospective Studies; Continuous Positive Airway Pressure; Pierre Robin Syndrome; Osteogenesis, Distraction; Treatment Outcome; Airway Obstruction; Sleep Apnea, Obstructive; Combined Modality Therapy; Mandible
PubMed: 35352571
DOI: 10.1177/10556656221088173 -
Journal of Dental Research Apr 2021The etiology and pathogenesis of craniofacial birth defects are multifactorial and include both genetic and environmental factors. Despite the identification of numerous...
The etiology and pathogenesis of craniofacial birth defects are multifactorial and include both genetic and environmental factors. Despite the identification of numerous genes associated with congenital craniofacial anomalies, our understanding of their etiology remains incomplete, and many affected individuals have an unknown genetic diagnosis. Here, we show that conditional loss of a Mediator complex subunit protein, Med23 in mouse neural crest cells (;), results in micrognathia, glossoptosis, and cleft palate, mimicking the phenotype of Pierre Robin sequence. messenger RNA and protein levels are both upregulated in neural crest cell-derived mesenchyme surrounding Meckel's cartilage and in the palatal shelves in ; mutant embryos compared to controls. Consistent with these observations, we demonstrate that Med23 binds to the promoter region of and represses Sox9 expression in vitro. Interestingly, Sox9 binding to β-catenin is enhanced in ; mutant embryos, which, together with downregulation of Col2a1 and Wnt signaling target genes, results in decreased proliferation and altered jaw skeletal differentiation and cleft palate. Altogether, our data support a cell-autonomous requirement for Med23 in neural crest cells, potentially linking the global transcription machinery through Med23 to the etiology and pathogenesis of craniofacial anomalies such as micrognathia and cleft palate.
Topics: Animals; Cleft Palate; Mediator Complex; Mesoderm; Mice; Neural Crest; Pierre Robin Syndrome; SOX9 Transcription Factor; Wnt Signaling Pathway
PubMed: 33155500
DOI: 10.1177/0022034520969109 -
American Journal of Perinatology May 2024This study aimed to explore the efficiency of ultrasound (US) in prenatal diagnosis and prognosis of Pierre Robin sequence (PRS) of 18 cases.
OBJECTIVE
This study aimed to explore the efficiency of ultrasound (US) in prenatal diagnosis and prognosis of Pierre Robin sequence (PRS) of 18 cases.
STUDY DESIGN
A total of 79,305 women admitted for prenatal US examinations were recruited from January 2017 to December 2020. Eighteen cases of PRS fetuses were selected form the cohort and 40 cases of isolated micrognathia were recruited randomly as control group. All the clinical and imaging results were retrospectively reviewed. General condition, US measurements, and prognosis of fetuses were compared between groups.
RESULTS
Cleft palate, glossoptosis, and micrognathia were found in all 18 fetuses with PRS by prenatal US. Compared with the isolated micrognathia group, there were no significant differences in the PRS group in examination of maternal age, gestational weeks at assessment, and gender of fetuses, but significant lower measures in inferior facial angle, jaw index, and frontal nasal-mental angle (each < 0.05). Twelve fetuses were defined to have other associated malformations. Ear malformations were the most common associated malformations with a prevalence of 44.4% (8/18). All of the18 cases were confirmed with PRS after delivery or autopsy. Two delivered infants were found bucking easily, one baby was spitting up frequently but growth showed normal.
CONCLUSION
Prenatal detection of PRS with US examination is highly efficient. Even with the triad of malformations, isolated PRS had good outcomes following initial stabilization and management in the neonatal period. Prenatal detection of Pierre Robin syndrome with targeted US examination is efficient in discerning characteristics of this rare syndrome. Even with the triad of malformations, isolated PRS had good outcomes following initial stabilization and management in the neonatal period.
KEY POINTS
· Prenatal diagnosis of fetal PRS is of great clinical importance.. · Micrognathia has been identified as the primary feature of PRS.. · Posterior displacement of the tongue may cause acute neonatal respiratory distress.. · Even with triad malformation, isolated PRS seemed to have good outcomes..
Topics: Humans; Pierre Robin Syndrome; Female; Retrospective Studies; Pregnancy; Ultrasonography, Prenatal; Prognosis; Infant, Newborn; Micrognathism; Adult; Cleft Palate; Male; Glossoptosis; Gestational Age
PubMed: 37068514
DOI: 10.1055/s-0043-1768233 -
Seminars in Fetal & Neonatal Medicine Dec 2021A Robin sequence parent presents the view that Robin sequence healthcare providers are engaging in practices which may be outdated, excessively invasive, and... (Review)
Review
A Robin sequence parent presents the view that Robin sequence healthcare providers are engaging in practices which may be outdated, excessively invasive, and unnecessarily detrimental to quality of life, and proposes possible areas of research to improve patient outcomes.
Topics: Humans; Infant; Parents; Pierre Robin Syndrome; Quality of Life
PubMed: 34688586
DOI: 10.1016/j.siny.2021.101288 -
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 -
European Journal of Medical Genetics Nov 2022Associated congenital anomalies may be observed in cases with achondroplasia. The prevalence reported in the literature and the types of co-occurring congenital...
Associated congenital anomalies may be observed in cases with achondroplasia. The prevalence reported in the literature and the types of co-occurring congenital anomalies are variable between the reported studies. The aim of this study was to establish the prevalence and to describe the associated anomalies in cases with achondroplasia. This study included 25 cases ascertained from our registry of congenital anomalies including all terminations of pregnancy, stillbirths and live births between 1979 and 2007 in 387,067 consecutive births (the prevalence of achondroplasia was 6.4 per 100,000 births), and 223 cases ascertained from the French Little People organization built on the model of LPA (Little People of America, Inc.). Out of these 248 cases of achondroplasia 37 (14.9%) had associated anomalies including 4 (1.6%) cases with chromosomal abnormalities (2 trisomies 21, one 22 q11.2 deletion, and one 47, XXX), 2 (0.8%) cases with recognizable non-chromosomal conditions (one Moebius syndrome and one Pierre Robin sequence) and 31(12.5%) cases with MCA (multiple congenital anomalies). The 31 cases with MCA had 45 anomalies. Anomalies in the urogenital system (24.4%), the cardiovascular system (20.0%), the musculoskeletal system (15.5%), the central nervous system (11.1%), the eye (11.1%), and the orofacial system (8.8%) were the most common MCA. The overall prevalence of associated anomalies shows that the individuals with achondroplasia need a careful screening for other congenital anomalies.
Topics: Abnormalities, Multiple; Achondroplasia; Chromosome Aberrations; Congenital Abnormalities; Down Syndrome; Female; Humans; Pregnancy; Prevalence; Registries; Trisomy
PubMed: 36150686
DOI: 10.1016/j.ejmg.2022.104612 -
Plastic and Reconstructive Surgery Nov 2020One of the arguments against early intervention for micrognathia in Pierre Robin sequence is the concept that the growth of the mandible will eventually "catch up."...
BACKGROUND
One of the arguments against early intervention for micrognathia in Pierre Robin sequence is the concept that the growth of the mandible will eventually "catch up." Long-term growth of the mandible and occlusal relationships of conservatively managed Pierre Robin sequence patients remain unknown. In this study, the authors evaluated the orthognathic surgery requirements for Pierre Robin sequence patients at skeletal maturity.
METHODS
Orthognathic surgical requirements of conservatively managed Pierre Robin sequence and isolated cleft patients (aged ≥13 years) at two institutions were reviewed and analyzed using t test, chi-square test, and Fisher's exact test. Values of p < 0.05 were considered statistically significant.
RESULTS
Of the Pierre Robin sequence patients (n = 64; mean age ± SD, 17.9 ± 2.9 years), 65.6 percent were syndromic (primarily Stickler and velocardiofacial syndrome), 96.9 percent had a cleft palate, and 39.1 percent required orthognathic surgery at skeletal maturity. Nonsyndromic and syndromic Pierre Robin sequence patients demonstrated no differences in occlusal relationships or mandibular surgery frequency. The majority of Pierre Robin sequence patients requiring mandibular advancement had a class II occlusion. Comparison of Pierre Robin sequence patients to isolated cleft palate patients (n = 17) revealed a comparable frequency of orthognathic surgery between the two; however, Pierre Robin sequence patients did require mandibular advancement surgery at a greater frequency than cleft palate patients (p = 0.006).
CONCLUSIONS
The present study found that 39.1 percent of conservatively managed Pierre Robin sequence patients required orthognathic surgery at skeletal maturity, of which the vast majority required mandibular advancement for class II malocclusion. These data suggest that mandibular micrognathia in conservatively managed Pierre Robin sequence patients may not resolve over time and may require surgical intervention.
CLINICAL QUESTION/LEVEL OF EVIDENCE
Risk, II.
Topics: Adolescent; Cephalometry; Cleft Palate; Conservative Treatment; Female; Follow-Up Studies; Humans; Male; Malocclusion, Angle Class II; Mandible; Orthognathic Surgical Procedures; Pierre Robin Syndrome; Retrospective Studies; Treatment Outcome; Young Adult
PubMed: 33136957
DOI: 10.1097/PRS.0000000000007246 -
Seminars in Fetal & Neonatal Medicine Dec 2021Facial clefts and Robin sequence (RS) share the timing of the diagnosis during the course of pregnancy, their association with genetic diseases and the subsequent... (Review)
Review
Facial clefts and Robin sequence (RS) share the timing of the diagnosis during the course of pregnancy, their association with genetic diseases and the subsequent management following the initial diagnosis. If a suspicion of a facial cleft or RS is made, a detailed anatomical examination of the fetus should be carried out to identify further anomalies. This may also involve genetic testing including a microarray or an exome analysis. Interdisciplinary counseling, including pre- and postnatal experts with sufficient experience in the management of such neonates, should be involved in this counseling. Parents should be informed about disease-specific therapeutic options and postnatal outcome. Delivery should take place in a center with experience in craniofacial malformations where clinicians are prepared for potentially life-threatening airway obstruction immediately after birth.
Topics: Cleft Lip; Cleft Palate; Female; Fetus; Humans; Infant; Infant, Newborn; Pierre Robin Syndrome; Pregnancy; Ultrasonography, Prenatal
PubMed: 34593337
DOI: 10.1016/j.siny.2021.101291