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Sleep Medicine Reviews Jun 2016Children with craniofacial syndromes are at risk of sleep disordered breathing, the most common being obstructive sleep apnea. Midface hypoplasia in children with... (Review)
Review
Children with craniofacial syndromes are at risk of sleep disordered breathing, the most common being obstructive sleep apnea. Midface hypoplasia in children with craniosynostosis and glossoptosis in children with Pierre Robin syndrome are well recognized risk factors, but the etiology is often multifactorial and many children have multilevel airway obstruction. We examine the published evidence and explore the current management strategies in these complex patients. Some treatment modalities are similar to those used in otherwise healthy children such as adenotonsillectomy, positive pressure ventilation and in the refractory cases, tracheostomy. However, there are some distinct approaches such as nasopharyngeal airways, tongue lip adhesion, mandibular distraction osteogenesis in children with Pierre Robin sequence, and midface advancement in children with craniosynostoses. Clinicians should have a low threshold for referral for evaluation of sleep-disordered-breathing in these patients.
Topics: Airway Obstruction; Child; Cleft Palate; Craniofacial Abnormalities; Craniosynostoses; Humans; Pierre Robin Syndrome; Sleep Apnea, Obstructive; Tonsillectomy; Tracheostomy
PubMed: 26454241
DOI: 10.1016/j.smrv.2015.05.010 -
Seminars in Fetal & Neonatal Medicine Dec 2021Approximately 5% of children experience difficulty with the complex coordination of sucking, swallowing and breathing required for feeding. Infants with craniofacial... (Review)
Review
Approximately 5% of children experience difficulty with the complex coordination of sucking, swallowing and breathing required for feeding. Infants with craniofacial malformations may have anatomic and neurologic contributions to feeding problems. Examples include cleft lip and/or palate, micrognathia, maxillary hypoplasia, and pharyngeal dysfunction. Interventions may facilitate weight gain and avoid failure-to-thrive in these infants. An interdisciplinary approach to address feeding challenges in children with craniofacial differences is necessary. Positional changes, latching maneuvers, specialized feeder nipples, squeezable bottles, and cup feeding can be implemented early. Surgical intervention, including gastrostomy tube placement, tongue lip adhesion, mandibular distraction osteogenesis and tracheostomy, may be required in more severe cases.
Topics: Airway Obstruction; Child; Cleft Lip; Cleft Palate; Humans; Infant; Mandible; Osteogenesis, Distraction; Pierre Robin Syndrome; Retrospective Studies
PubMed: 34561178
DOI: 10.1016/j.siny.2021.101280 -
The Journal of Craniofacial Surgery Sep 2020After a failed mandibular osteodistraction, the wrong positioned mandible of a few patients with Pierre Robin sequence returned in the most functional position and...
After a failed mandibular osteodistraction, the wrong positioned mandible of a few patients with Pierre Robin sequence returned in the most functional position and regained a proper symmetry, without external intervention. The study aims to explain this self-adjustment and introduce the floating bone phenomenon.The inclusion criteria were severe micrognathia, Fast and Early Mandibular Distraction Osteogenesis protocol, postoperative mandibular wrong positioning, presurgery, immediate postsurgery, and long-term computed tomography scan. Five patients were included. The considered parameters were the distance between mandibular dental centerline and midsagittal facial axis, the rotation of the mandibular body, the magnitude of elongation, and the lowering of the mandibular body.Three patients went from a decentralization >4 mm in the activation phase to a normalization of the said value in the follow-up. In the same period, the interincisal point of 2 patients moved respectively from 0.5 mm on the left and 0.8 mm on the right to 1.2 mm and 1.6 mm on the right, respectively. The rotation of the mandibular body was meanly 25.6° among all patients. The mean value of the distraction was 14.1 mm. A difference of about 4.4 mm between the left and the right side was measured. The lowering of the mandible varied between 2.8 and 12.6 mm.All patients improved their symmetry. Four of them improved in all the measured parameters, while 1 patient presented a worsening in the decentralization of the interincisal point.The floating bone phenomenon could break new grounds in the management of patients with Pierre Robin sequence.
Topics: Humans; Mandible; Osteogenesis, Distraction; Pierre Robin Syndrome; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 32282671
DOI: 10.1097/SCS.0000000000006405 -
Archives of Disease in Childhood. Fetal... Mar 2020Methadone is a vital treatment for women with opioid use disorder in pregnancy. Previous reports suggested an association between methadone exposure and Pierre Robin...
OBJECTIVE
Methadone is a vital treatment for women with opioid use disorder in pregnancy. Previous reports suggested an association between methadone exposure and Pierre Robin sequence (PRS), a rare craniofacial anomaly. We assessed the association between gestational methadone exposure and PRS.
DESIGN/SETTING
This case-malformed control study used European Surveillance of Congenital Anomalies population-based registries in Ireland, the Netherlands, Italy, Switzerland, Croatia, Malta, Portugal, Germany, Wales, Norway and Spain, 1995-2011.
PATIENTS
Cases included PRS based on International Classification of Disease (ICD), Ninth Edition-British Paediatric Association (BPA) code 75 603 or ICD, Tenth Edition-BPA code Q8708. Malformed controls were all non-PRS anomalies, excluding genetic conditions, among live births, fetal deaths from 20 weeks' gestation and terminations of pregnancy for fetal anomalies. An exploratory analysis assessed the association between methadone exposure and other congenital anomalies (CAs) excluding PRS. Methadone exposure was ascertained from medical records and maternal interview.
RESULTS
Among 87 979 CA registrations, there were 127 methadone-exposed pregnancies and 336 PRS cases. There was an association between methadone exposure and PRS (OR adjusted for registry 12.3, 95% CI 5.7 to 26.8). In absolute terms, this association reflects a risk increase from approximately 1-12 cases per 10 000 births. A raised OR was found for cleft palate (adjusted OR 5.0, 95% CI 2.7 to 9.2).
CONCLUSIONS
These findings suggest that gestational methadone exposure is associated with PRS. The association may be explained by unmeasured confounding factors. The small increased risk of PRS in itself does not alter the risk-benefit balance for gestational methadone use. The association with cleft palate, a more common CA, should be assessed with independent data.
Topics: Adult; Case-Control Studies; Cleft Palate; Comorbidity; Europe; Female; Gestational Age; Humans; Infant, Newborn; Male; Methadone; Opioid-Related Disorders; Pierre Robin Syndrome; Pregnancy; Prenatal Exposure Delayed Effects; Risk Assessment
PubMed: 31229957
DOI: 10.1136/archdischild-2019-316804 -
Pediatrics International : Official... Apr 2015Nager syndrome is considered a rare genetic syndrome characterized by craniofacial and radial anomalies. Pierre Robin sequence is a triad that includes micrognathia,... (Review)
Review
Nager syndrome is considered a rare genetic syndrome characterized by craniofacial and radial anomalies. Pierre Robin sequence is a triad that includes micrognathia, cleft palate and glossoptosis. The present patient had typical findings of Nager syndrome and Pierre Robin sequence. He progressed to severe respiratory distress, requiring mechanical ventilation and tracheostomy. At 1 year and 11 months, he had episodes of cardiorespiratory arrest and died. In the literature review, we identified the clinical description of 44 patients with Nager syndrome. Among them, 93.1% had micrognathia, 38.6% cleft palate and 11.3% glossoptosis. Only one (2.3%) had all three features, as observed in the present patient. Therefore, despite the fact that the features of Pierre Robin sequence are common, there are few patients who have the complete triad. It is noteworthy, however, that they may be associated with respiratory distress, which may put the patient's life at risk.
Topics: Fatal Outcome; Humans; Infant; Infant, Newborn; Male; Mandibulofacial Dysostosis; Pierre Robin Syndrome; Respiration, Artificial; Tracheostomy
PubMed: 25808856
DOI: 10.1111/ped.12562 -
Journal of Stomatology, Oral and... Nov 2018Pierre Robin syndrome (PRS) is characterized of a triad of clinical signs: micrognathia, glossoptosis and obstruction of the upper airways frequently associated with... (Review)
Review
Pierre Robin syndrome (PRS) is characterized of a triad of clinical signs: micrognathia, glossoptosis and obstruction of the upper airways frequently associated with palatal cleft. It is a heterogenic pathological entity and it can be found as isolated disease (nsPRS) or in association with other syndromes (sPRS), with more pronounced symptoms and systemic involvement. This review aims to summarize the principal features of PRS, analysing the different aspects of the disease. Epidemiological data highlight incidence, severity and mortality of PRS; pathophysiological mechanism reports the etiology and pathogenesis of the disease distinguishing between isolated and syndromic form. Because of the clinical importance of PRS, it's fundamental to describe the features of the Robin sequence to clearly define its primary and secondary clinical signs useful to diagnosis. A complete evaluation of the syndrome allows choosing the most appropriate therapeutic treatment, opting for conservative or surgical management, in order to improve the quality of life of the patient.
Topics: Airway Obstruction; Glossoptosis; Humans; Micrognathism; Pierre Robin Syndrome; Quality of Life
PubMed: 29777780
DOI: 10.1016/j.jormas.2018.05.002 -
American Journal of Medical Genetics.... Jan 2022Robin sequence (RS), the triad of micrognathia, glossoptosis, and airway obstruction, is a major cause of respiratory distress and feeding difficulties in neonates....
Robin sequence (RS), the triad of micrognathia, glossoptosis, and airway obstruction, is a major cause of respiratory distress and feeding difficulties in neonates. Robin sequence can be associated with other medical or developmental comorbidities in ~50% of cases ("syndromic" RS). As well, RS is variably associated with cleft palate (CP). Previous studies have not investigated differences in clinical characteristics of children with RS based on presence or absence of CP. We retrospectively reviewed 175 children with RS and compared genetic diagnoses, medical and developmental comorbidities, severity of airway obstruction, and feeding outcomes between those with and without CP. Strikingly, 45 of 45 (100%) children with RS without CP were classified as syndromic due to presence of comorbidities unrelated to RS, while 83 of 130 (64%) children with RS with CP were classified as syndromic. Among 128 children with syndromic RS, there were no differences in severity of airway obstruction, surgical intervention rate or type, or feeding outcome at 12 months based on CP status. Our findings support the conclusion that the pathogenesis of RS without CP is distinct from RS with CP and more likely to cause additional medical or developmental problems. Alternatively, children with RS without CP and without additional anomalies present may be under recognized.
Topics: Airway Obstruction; Child; Cleft Palate; Humans; Infant, Newborn; Micrognathism; Pierre Robin Syndrome; Retrospective Studies
PubMed: 34569146
DOI: 10.1002/ajmg.a.62515 -
The Cleft Palate-craniofacial Journal :... Jan 2021The aim of this study was to compare the dentoskeletal pattern of Treacher Collins syndrome (TCS) and nonsyndromic Pierre Robin sequence (PRS).
OBJECTIVE
The aim of this study was to compare the dentoskeletal pattern of Treacher Collins syndrome (TCS) and nonsyndromic Pierre Robin sequence (PRS).
DESIGN
Retrospective.
SETTING
Single center.
PATIENTS
Eighteen patients diagnosed with TCS (Group TCS) or PRS (Group PRS) in rehabilitation treatment at a single center. Group TCS was composed of 9 patients (4 male, 5 female) with a mean age of 12.9 years (standard deviation = 4.8). Group PRS was composed of 9 patients paired by age and sex with group TCS.
MAIN OUTCOME MEASURE(S)
Cone beam computed tomography-derived cephalometric images taken before the orthodontic or the orthodontic-surgical treatment were analyzed using Dolphin Imaging (Dolphin Imaging 11.0 & Management Solutions). Variables evaluating the cranial base, the maxillary and mandibular skeletal components, maxillomandibular relationship, the vertical components and the dentoalveolar region were measured. Intergroup comparisons were performed using tests. The significance level considered was 5%.
RESULTS
Intergroup differences in the mandible size and growth pattern were observed. Group TCS showed a smaller mandibular length (Co-Go, Co-Gn) and a higher palatal plane (SN-Palatal Plane) and mandibular plane angles (SN-Go.Gn) compared to group PRS. No differences between TCS and PRS were observed for the sagittal position of the maxilla, maxillomandibular relationship, and dental components.
CONCLUSIONS
Treacher Collins syndrome presented a decreased mandible and a more severe vertical growth pattern compared to PRS.
Topics: Cephalometry; Female; Humans; Male; Mandible; Mandibulofacial Dysostosis; Pierre Robin Syndrome; Retrospective Studies
PubMed: 32613853
DOI: 10.1177/1055665620937499 -
The Cleft Palate-craniofacial Journal :... Nov 2021Patients with Richieri-Costa-Pereira syndrome (RCPS) present severe craniofacial alterations and frequently require orthodontic and surgical procedures. Thus, this study...
OBJECTIVE
Patients with Richieri-Costa-Pereira syndrome (RCPS) present severe craniofacial alterations and frequently require orthodontic and surgical procedures. Thus, this study aims to describe the craniofacial relationships in patients with RCPS.
DESIGN
Panoramic radiographs and lateral cephalometric teleradiographs of 7 patients with RCPS and 7 age- and sex-matched nonsyndromic patients were analyzed. Cephalometric measurements were used to determine the size of apical bases, the relationship between them, the pattern of craniofacial growth, and the facial heights of the patients. Interobservers' concordance was verified by intraclass coefficient. For comparison between the groups, paired test was employed. values <.05 indicated statistical significance.
RESULTS
Average age of patients with RCPS was 18.5 years. Six patients were female. All patients with RCPS had Pierre-Robin sequence while 2 also presented cleft mandible. Most patients with RCPS had missing lower central incisors (100%), lower lateral incisors (85.7%), lower second premolars (85.7%), and/or upper lateral incisors (57.1%). Concordance between observers was excellent for all cephalometric measurements (0.87-0.99). Patients with RCPS presented severe craniofacial alterations when compared to control group: sella-nasion-B point (SNB) angle (73.8 ± 4.86 vs 78.85 ± 4.53, = .029), maxillary length (7.89 cm ± 0.58 cm vs 16.36 cm ± 0.75 cm, = .001), mandibular length (9.90 cm ± 0.46 cm vs 20.61 cm ± 0.45 cm, = .001), upper anterior face height (5.41 cm ± 0.50 cm vs 9.40 cm ± 0.47 cm, = .001), lower anterior face height (5.48 cm ± 0.75 cm vs 11.66 cm ± 0.55 cm, = .001), and posterior face height (6.70 cm ± 0.33 cm vs 13.65 cm ± 1.06 cm, = .001). There was no difference in SNB, A point-nasion-B point, pogonion-nasion-B point, and mandibular place angles between the groups ( > .05).
CONCLUSION
Patients with RCPS present deficient development of maxilla and mandible when compared with nonsyndromic patients.
Topics: Adolescent; Clubfoot; Female; Hand Deformities, Congenital; Humans; Maxilla; Pierre Robin Syndrome
PubMed: 33504197
DOI: 10.1177/1055665620987749 -
International Journal of Pediatric... Aug 2015To review early clinical manifestations of Pierre Robin sequence (PRS) and their management during the first year of life in the University Hospitals Leuven. (Review)
Review
OBJECTIVES
To review early clinical manifestations of Pierre Robin sequence (PRS) and their management during the first year of life in the University Hospitals Leuven.
METHODS
Retrospective series of 48 patients with PRS born between 2001 and 2011 and treated at a tertiary referral hospital. Review of the current literature about management of respiratory and breathing difficulties in the early life of PRS patients.
RESULTS
Of our cleft palate patients 15.3% presented with PRS. A syndrome was diagnosed in 14.6%, associated anomalies without a syndromic diagnosis in 56.3% and isolated PRS in 29.2% of the cases. Mortality rate directly related to PRS was 2.1%. Respiratory difficulties were observed in 83.3% and feeding difficulties in 95.6% of the patients. Respiratory problems were addressed in a conservative way in 75%, in a non-surgical invasive way in 42.5% and in a surgical way in 12.5%. A statistically significant relationship between the association of a syndrome or other anomalies, and a higher need for resuscitation and invasive treatment were found (chi-square test, p-values=0.019 and 0.034). Feeding difficulties were managed conservatively in 91.3%, invasively in 80.4% and surgically in 15.2%.
CONCLUSIONS
PRS is frequently associated with other abnormalities or syndromes. Therefore routine screening for associated anomalies in neonates with PRS is recommendable. Respiratory and feeding complications are highly frequent and possibly severe, particularly in patients with associated anomalies or syndromes, and should be recognized and addressed appropriately in an early stage. There is a potential role for the nasopharyngeal airway in reducing the need for the more traditional surgical interventions for respiratory problems.
Topics: Airway Obstruction; Cleft Palate; Deglutition Disorders; Humans; Infant; Infant, Newborn; Pierre Robin Syndrome; Prevalence; Retrospective Studies; Tertiary Care Centers
PubMed: 26092549
DOI: 10.1016/j.ijporl.2015.05.012