Robin Sequence Facial Profile After Conservative Treatment: A Long-Term Follow-Up.

INTRODUCTION: Robin sequence (RS) is a congenital clinical condition characterized by micrognathia, glossoptosis, and respiratory distress. Conservative methods could be responsible for releasing feeding and respiratory impairment but little information about mandibular growth is known in long-term follow-up. OBJECTIVE: Assessing the longitudinal behavior of the facial profile of individuals with isolated RS who underwent conservative micrognathia treatment using photographs during the whole craniofacial growth. METHODS: Photographs of the right facial profile of 100 patients were used (50 individuals with isolated RS and 50 individuals without craniofacial anomaly). The individuals with RS were evaluated at 3 different times (T1: infant, T2: mixed dentition, T3: permanent dentition) by measuring the facial convexity angle (FCA; G.Sn.Pog´). A comparison between T3 and control group (C), individuals without craniofacial anomalies and in permanent dentition, was also performed, checking the FCA, nasolabial angle (Ls.Sn.Cm), mentolabial fold (Li.Si.Pog´), facial inferior third (Sn.Gn´.C) angles and the ratio between middle anterior facial height and lower anterior facial height. RESULTS: The T3 group showed an increased angle of facial convexity and increased facial inferior third angle and middle anterior facial height/lower anterior facial height ratio compared with the control group. In the longitudinal evaluation of individuals with isolated RS, significant differences were identified between T1 and T2 groups and T1 and T3 groups showing that the increased facial convexity was higher in the infants and that did not change significantly between the phases of mixed and permanent dentition. CONCLUSIONS: RS showed increased facial convexity in all phases evaluated, but their convexity decreased with growth. When compared with individuals without craniofacial anomalies, the individuals continue to exhibit retrognathism in the permanent dentition. The lack of a mandible projection has led to a considerable number of orthognathic surgeries for the correction of discrepancies.

A Prospective Observational Crossover Study Comparing Intubation by Pediatric Residents Using Video Laryngoscopy and Direct Laryngoscopy on a Pierre Robin Simulation Manikin.

INTRODUCTION: Video laryngoscopy (VL) has been proposed to increase the likelihood of successful intubation in patients with predicted difficult airways such as those with Pierre Robin sequence (PRS). Prior studies have focused on the performance of anesthesiologists, who are generally considered airway experts. Our primary aim was to investigate the success rate of intubation using VL compared with direct laryngoscopy (DL) when attempted by pediatric residents on a PRS model. METHODS: Participants were administered a 5-minute refresher video on 2 VL techniques (CMAC, conventional geometry VL, and McGrath, unconventional geometry VL) and DL. The participants were asked to intubate the AirSim PRS infant manikin. The order of VL and DL use was randomly selected. All intubations were video recorded, and the recordings were analyzed by 3 anesthesiologists blinded to the participant's identity and previous experience. RESULTS: Seventeen of 23 residents succeeded in intubating the PRS model using DL. Only 9 residents succeeded in intubating the PRS model using VL (conventional or unconventional geometry). Intubation success rate was higher when comparing DL with VL ( P = 0.04) and similar when comparing VL devices ( P = 0.69). DISCUSSION: Contrary to expectation, the intubation success rate was lower using VL than with DL among pediatric residents. This should be considered when designing residency training and in real-life resuscitation.

Long-Term Orthognathic Considerations in the Pierre Robin Sequence Patient.

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.

A retrospective study of patients with Robin sequence: Patient characteristics and their impact on clinical outcomes.

INTRODUCTION: Robin sequence (RS) is a congenital set of abnormalities of the head and neck, consisting of a hypoplastic mandible (micrognathia), a tongue that is displaced posteriorly (glossoptosis), and obstruction of the airway. A clear set of diagnostic criteria for this complex condition has recently been established, but there is still no consensus in the literature with respect to managing the associated airway, feeding, and hearing difficulties. The objectives of the study are: 1) to describe the management of airway and feeding issues in children with RS; and 2) to evaluate the impact of airway and feeding strategies on important clinical outcomes. METHODS: A retrospective chart review was conducted of all pediatric patients diagnosed with RS at London Health Sciences Centre from January 1995 until September 2017. The frequencies of all airway and feeding interventions were collected. Data were collected on several clinical outcomes including initial admission length, enteral feeding duration, tympanostomy tube insertion frequency, and hearing thresholds. Statistical analyses to evaluate the impact of airway and feeding strategies on clinical outcomes were carried out using independent samples t-tests and Chi-square tests, where appropriate. RESULTS: Twenty-four patients were identified. Five patients (20.8%) required airway surgery and 18 patients (75.0%) required enteral feeding. Airway surgery was significantly associated with a longer ICU admission (15.8 vs. 4.3 days, p < 0.05), a longer overall hospital admission (73.0 vs. 25.2 days, p < 0.05), a delay in introducing oral feeds (222.8 vs. 11.5 days, p < 0.05), and a higher frequency of tympanostomy tube insertions (80% vs. 23.5% requiring ≥2 insertions, p < 0.05). Enteral feeding was significantly associated with a longer ICU admission (8.8 vs. 0 days, p < 0.05) and a longer overall hospital admission (43.9 vs. 5.6 days, p < 0.05). CONCLUSIONS: This study demonstrates the substantial impact that airway and feeding difficulties have on RS patient morbidity, particularly with respect to length of hospital and ICU admission. This information has prognostic value and may be helpful in generating a management algorithm for this complex patient population.

The Tübingen palatal plate approach to Robin sequence: Summary of current evidence.

Various treatments, many of them considerably invasive, are currently applied to infants with Robin sequence (RS) and accompanying upper airway obstruction (UAO). We present a narrative review of our data on the Tübingen palatal plate (TPP) which show the following: a) in a randomized trial, the TPP was superior to a sham procedure in alleviating UAO; b) children treated with the TPP in infancy showed an intellectual development within the reference range; c) prone positioning is no alternative, as it is ineffective and associated with an increased risk of sudden death; d) the TPP reduces the mixed-obstructive apnea index to near-normal values, both in isolated and most (83%) syndromic RS, e) of 443 infants (129 syndromic) treated with the TPP in our center, 23 (5%) ultimately received a tracheostomy (all with syndromic RS), f) recent data suggest that the TPP may induce mandibular catch-up growth, g) the TPP may also help to reduce respiratory complications following cleft closure in RS, and h) TPP treatment is applied by various centers around the world, although it is unclear if its effectiveness is invariably controlled by endoscopy and sleep studies, although both are necessary. Given these data from peer-reviewed studies, it may be questioned whether the "First do no harm" principle is always adhered to when subjecting RS infants to more invasive procedures such as mandibular distraction osteogenesis or tongue-lip adhesion.

Longitudinal Sleep Outcomes in Neonates With Pierre Robin Sequence Treated Conservatively.

STUDY OBJECTIVES: Although Pierre Robin sequence (PRS) is a major cause of neonatal obstructive sleep apnea (OSA), longitudinal studies reporting evolution with age are lacking. This study aimed to describe changes in sleep-related respiratory parameters and sleep architecture in neonates with PRS treated conservatively (defined for this paper as treatment without tracheostomy or mandibular distraction). METHODS: A retrospective, 14-year, single-institution study of neonates with PRS who underwent diagnostic polysomnography (PSG) and at least one follow-up PSG. Those treated with surgery were excluded. Data were analyzed using a mixed-effects model with subject-specific random effect. RESULTS: In a cohort of 21 infants, baseline PSG (mean age 0.9 ± 0.7 months) showed a total apnea-hypopnea index (AHI) of 24.3 ± 3.6 events/h, obstructive apnea-hypopnea index (OAHI) of 13.4 ± 1.6 events/h, central apnea index of 10.2 ± 3.2 events/h, and an arousal index of 28.3 ± 1.3 events/h (variables reported as least square means ± standard error of the mean). There was a significant reduction in AHI, OAHI, arousal index, and percentage of REM sleep with advancing age. Although 71% of infants achieved full oral feeds by one month of age, some infants remained underweight during infancy. CONCLUSIONS: These neonates with PRS and OSA, treated conservatively, had an improvement in OAHI with advancing age with the median age of OSA resolution at 15 months. Factors potentially responsible include craniofacial growth and maturational changes of respiratory control. Further studies are necessary to determine the long-term effects of conservative management on growth and neurodevelopmental outcomes in these infants.

[How I treat : airway obstruction in children with sequence of Pierre Robin]. / Comment je traite l'obstruction respiratoire chez l'enfant atteint d'une séquence de Pierre Robin.

Pierre Robin sequence (PRS) is described as a triad of micrognathia, glossoptosis and cleft palate. This sequence may be isolated or associated with a genetic syndrome in half of the cases. Main complications affect respiratory function and the upper digestive tract. Respiratory obstruction can arise as soon as in the first hours of life and may be life-threatening if no early appropriate management is implemented. PRS is phenotypically variable and the required treatment varies accordingly: some patients will be relieved with prone positioning alone while others will benefit from nasopharyngeal tube, CPAP ("Continuous Positive Airway Pressure") or rarely surgery. In this article, we describe a clinical case and then discuss the available therapeutic strategies.

La séquence de Pierre Robin associe un rétrognatisme, une glossoptose et une fente palatine. Elle est isolée ou liée à un syndrome génétique dans la moitié des cas. Les complications sont principalement respiratoires et digestives. L'obstruction respiratoire peut se manifester dès les premières heures de vie et altérer la vie de l'enfant en l'absence d'une prise en charge précoce. Le degré de sévérité peut varier d'un enfant à l'autre et, alors que certains patients seront soulagés avec une position ventrale, d'autres nécessiteront un tube naso-pharyngé, une ventilation en pression positive continue (CPAP) ou, plus rarement, une intervention chirurgicale. Dans cet article, nous décrivons un cas clinique, puis nous rediscutons de l'ensemble des possibilités thérapeutiques.

Kyphomelic dysplasia, Pierre Robin Sequence and pregnant.

We present the anaesthetic management of a parturient with kyphomelic dysplasia and Pierre Robin Sequence who underwent elective caesarean delivery. Potential anaesthetic issues and management strategies are discussed.

Difficult airway intubation simulation using Bonfils fiberscope and rigid fiberscope for surgical training.

INTRODUCTION: Pediatric otolaryngologists are frequently called to assist in difficult airway management in newborns with Pierre Robin Sequence (PRS) who have microretrognathia, glossoptosis, and an anterior larynx. The Bonfils fiberscope (BF) is a curved rigid scope designed to provide superior visualization in the anterior larynx. OBJECTIVE: (1) to assess whether BF provides an improvement in intubation success rate, time to intubation, or airway visualization as compared to rigid fiberscope (RF) in a difficult airway simulation setting and (2) to determine whether a training program for BF can improve time to intubation through practice trials. METHODS: Six right-handed trainees completed five trials on each of the three following airway models using the BF and RF: normal anatomy, anterior larynx and PRS. The normal larynx model was intubated only with RF. Main outcome measures were the time needed for tracheal intubation and Cormack-Lehane classification (1-4). RESULTS: The majority of the intubation trials showed a statistically significant difference between first and last completion times (p < .05) suggesting construct validity. Only the anterior larynx trials with BF did not demonstrate an improvement in time to intubation between first and last attempts (p < .3125). For the PRS retrognathia model, there was no statistically significant difference in time to intubation between using the BF and the RF (p < .44); in the anterior larynx model, the RF yielded a faster time to intubation than the BF on the final trial attempts (p < .0313). By Cormack-Lehane classification measures, laryngeal visualization by the BF was better than RF in the PRS manikin (p < .0022) while there was no significant difference in grade scores for the anterior larynx manikin (p < .45). All six trainees reported an improved visualization of the larynx with the BF compared to the RF for both the anterior larynx and PRS manikins; at the end of the trial runs, all participants noted an improvement in comfort level using the BF. CONCLUSION: The difficult airway simulation model is feasible for surgical training. BF adds superior visualization of the anterior larynx in PRS. Otolaryngology training programs may include BF as a supplemental tool in addition to RF as a part of the airway equipment training since there is significant improvement in time to intubation with consecutive practice trials and superior laryngeal visualization.

Pierre Robin Sequence: An Evidence-Based Treatment Proposal.

BACKGROUND: The Pierre Robin sequence (PRS) has been defined as the presence of micrognathia, glossoptosis, and respiratory obstruction in the neonatal period. Since its original description, different therapeutic approaches have been proposed obtaining different success rates, but there is no consensus about its management. METHODS: A literature review was conducted in PubMed, Embase, and Cochrane databases, for the period of January,1985 to November, 2016. A number of 23 articles resulting from clinical studies, discussing diagnostic tests or therapeutic approaches, and directly or indirectly comparing diagnostic or treatment modalities were selected and assessed using the GRADE methodology. RESULTS: After reviewing and analyzing the selected articles, an evidence-based algorithm for diagnosis and integral management of PRS patients was designed. CONCLUSION: Based on the anatomical principles and natural evolution of PRS, the clinical scenario must be evaluated thoroughly as a dynamic event to develop a management sequence that minimizes morbidity and mortality and accelerates patients' reinsertion to normal life.

Applicability of Orem: training of caregiver of infant with Robin Sequence / Aplicabilidad de Orem: capacitación del cuidador del lactante con Secuencia de Robin / Aplicabilidade de Orem: capacitação do cuidador do lactente com Sequência de Robin

ABSTRACT Objective: to report the nurses' experience in relation to the training of caregivers of infants with Isolated Robin Sequence (IRS) for maintaining care after hospital discharge from the perspective of Self-Care Theoretical Framework. Method: the following categories were considered in this experience report: self-care action, self-care capacity, therapeutic self-care demand, self-care deficit, and nursing system. The nursing system was wholly compensatory and supportive-educative. Results: caregivers' training by nurses results in the acquisition of technical skills and specific knowledge related to the infant's positioning in elevated ventral decubitus, nasopharyngeal intubation, feeding-facilitating techniques and care with the feeding tube. Final considerations: the continuity of home care is guaranteed from caregivers' training for the therapeutic demand.

RESUMEN Objetivo: relatar la experiencia de los enfermeros en relación a la capacitación de los cuidadores de lactantes con Secuencia de Robin Aislada (SRA) para mantener los cuidados después del alta hospitalaria en la perspectiva del Referencial Teórico del Autocuidado. Método: las siguientes categorías se consideraron en este relato de experiencia: acción de autocuidado, capacidad de autocuidado, demanda terapéutica de autocuidado, déficit de autocuidado y sistema de enfermería. El sistema de enfermería fue del tipo totalmente compensador y por medio de apoyo-educación. Resultados: la capacitación de los cuidadores por el enfermero resulta en la adquisición de habilidades técnicas y conocimientos específicos relacionados al posicionamiento del lactante en decúbito ventral y elevado, intubación nasofaríngea, técnicas facilitadoras de la alimentación y cuidados con la sonda para alimentación. Consideraciones finales: la continuidad de los cuidados domiciliarios está garantizada a partir de la capacitación del cuidador para la demanda terapéutica.

RESUMO Objetivo: relatar a experiência dos enfermeiros em relação à capacitação dos cuidadores de lactentes com Sequência de Robin isolada (SRI) para manutenção dos cuidados após alta hospitalar na perspectiva do Referencial Teórico do Autocuidado. Método: as seguintes categorias foram consideradas neste relato de experiência: ação de autocuidado, capacidade de autocuidado, demanda terapêutica de autocuidado, déficit de autocuidado e sistema de enfermagem. O sistema de enfermagem foi do tipo totalmente compensatório e por meio de apoio educativo. Resultados: a capacitação do cuidador pelo enfermeiro resulta na aquisição de habilidades técnicas e conhecimentos específicos referentes ao posicionamento do lactente em decúbito ventral e elevado, intubação nasofaríngea, técnicas facilitadoras da alimentação e cuidados com a sonda alimentadora. Considerações finais: a continuidade dos cuidados domiciliares é garantida a partir da capacitação do cuidador para a demanda terapêutica.

A comprehensive scoring system in correlation with perioperative airway management for neonatal Pierre Robin Sequence.

PURPOSE: To evaluate a comprehensive scoring system which combines clinical manifestations of Pierre Robin Sequence (PRS) including severity of breathing difficulties, body weight and preoperative Cormack-Lehane grade, for its correlation with perioperative PRS airway management decision. DESIGN: Forty PRS children were retrospectively recruited after surgery. Specialists examined all subjects and scored for clinical manifestations (1´ - 4´), weight gain (1´- 4´), dyspnea scores (1´- 4´), and Cormack-Lehane grade (1´- 4´). The correlation of the integrated scores and the necessity of endotracheal intubation or laryngeal mask application were analyzed. In addition, the score correlation with postoperative dyspnea and/or low pulse oxygen saturation (SPO2) levels after extubation was determined. FINDINGS: In our study every individual patient had a score from 0´ to 16´, while the higher in the numbers represented higher risk of breathing difficulty. All patients with comprehensive scores <10 points underwent endotracheal intubation successfully. Patients scoring 10-12 points had an intubation success rate of 47%, whereas all patients scored >13 points required a laryngeal mask assisted airway management and were considered to have difficult airways. Dyspnea after extubation and postoperative low SPO2 occurred among patients who scored over 10 points. CONCLUSION: In PRS patients, preoperative weight gaining status and severity of dyspnea in combination with Cormack-Lehane classification provide a scoring system that could help to optimize airway management decisions such as endotracheal intubation or laryngeal mask airway placement and has the potential to predict postoperative dyspnea or low SPO2 levels.

Airway and Feeding Outcomes of Mandibular Distraction, Tongue-Lip Adhesion, and Conservative Management in Pierre Robin Sequence: A Prospective Study.

BACKGROUND: Pierre Robin sequence is characterized by mandibular retrognathia and glossoptosis resulting in airway obstruction and feeding difficulties. When conservative management fails, mandibular distraction osteogenesis or tongue-lip adhesion may be required to avoid tracheostomy. The authors' goal was to prospectively evaluate the airway and feeding outcomes of their comprehensive approach to Pierre Robin sequence, which includes conservative management, mandibular distraction osteogenesis, and tongue-lip adhesion. METHODS: A longitudinal study of newborns with Pierre Robin sequence treated at a pediatric academic medical center between 2010 and 2015 was performed. Baseline feeding and respiratory data were collected. Patients underwent conservative management if they demonstrated sustainable weight gain without tube feeds, and if their airway was stable with positioning alone. Patients who required surgery underwent tongue-lip adhesion or mandibular distraction osteogenesis based on family and surgeon preference. Postoperative airway and feeding data were collected. RESULTS: Twenty-eight patients with Pierre Robin sequence were followed prospectively. Thirty-two percent had a syndrome. Ten underwent mandibular distraction osteogenesis, eight underwent tongue-lip adhesion, and 10 were treated conservatively. There were no differences in days to extubation or discharge, change in weight percentile, requirement for gastrostomy tube, or residual obstructive sleep apnea between the three groups. No patients required tracheostomy. The greatest reduction in apnea-hypopnea index occurred with mandibular distraction osteogenesis, followed by tongue-lip adhesion and conservative management. CONCLUSIONS: Careful selection of which patients with Pierre Robin sequence need surgery, and of the most appropriate surgical procedure for each patient, can minimize the need for postprocedure tracheostomy. A comprehensive approach to Pierre Robin sequence that includes conservative management, mandibular distraction osteogenesis, and tongue-lip adhesion can result in excellent airway and feeding outcomes. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, II.

Fisura palatina en la secuencia de Pierre Robin / Palatal cleft in Pierre Robin sequence

Entre los niños que nacen con falta de fusión de la bóveda palatina, un número determinado corresponde a recién nacidos con síndrome de Pierre Robin. Aquí se abre un abanico de pacientes con un grado variable de complejidades y anomalías. Algunos que portan otros síndromes aún más complejos, que padecen la entidad por hipoplasia mandibular, hasta otros que solo poseen una modesta micrognatia que permitió el desarrollo de la secuencia. Si bien la fi sura del paladar es una arista más dentro de anomalías que pueden ser más complejas, debe corregirse a tiempo y de manera efi caz para permitir una adecuada fonación. En este trabajo se presentan, sobre 126 fi surados tratados durante 10 años en un hospital de atención pediátrica privado en Buenos Aires, 17 casos de síndrome de Pierre Robin, así como sus características, edad, sexo, tratamiento, resultados quirúrgicos y foniátricos, y complicaciones.

Between children born with cleft palate, a number of them are newborn with Pierre Robin Syndrome. These have a variety and diff erent degrees of complexity and abnormalities. Added complex syndromes may be found aff ecting them with hypoplasia and others with a slight micrognathia that allowed the development of the sequence. Cleft palate is only one between other abnormalities, but needs and must be corrected effi ciently on time to allow proper phonation. A number of 126 cleft palate patients treated and followed during 10 years in a private childrens hospital, in Buenos Aires, are included, and between them, 17 have Pierre Robin sequence. Their age, sex, treatment, surgical results and phonetic results are included.

Functional treatment of airway obstruction and feeding problems in infants with Robin sequence.

BACKGROUND: Robin sequence (RS), characterised by micrognathia/retrognathia and glossoptosis with or without cleft palate, presents with intermittent upper airway obstruction and feeding difficulties. Active intervention is required to reduce the risk of brain damage or sudden death. Most treatment options are poorly studied and/or invasive. Our group developed a functional approach including early feeding training and the pre-epiglottic baton plate (PEBP), an orthodontic appliance with a velar extension shifting the base of the tongue forward. PATIENTS AND METHODS: We evaluated the effect of this approach on sleep study results and early weight gain by searching our electronic patient database for infants with isolated RS, born at or referred to our department between 1 January 2003 and 31 December 2012 and treated with the PEBP. RESULTS: Of 122 patients identified, 360 overnight sleep study results, obtained at admission, prior to hospital discharge and 3 months postdischarge, were available (117 infants had complete data). These showed a decrease in the mixed-obstructive apnoea index from (median; IQR) 8.8 (2.1-19.7) to 1.8 (0.6-5.4); p<0.001 and 0.2 (0-1.3); p<0.001, respectively. Z-scores for weight improved from -0.7 (-1.39 to -0.24) upon admission to -0.5 (-0.90 to +0.02) at follow-up (p=0.02), accompanied by a decrease in the proportion of infants requiring nasogastric tube feeding from 66% to 8%. No infant required craniofacial surgery or tracheostomy. CONCLUSIONS: These longitudinal cohort data suggest that this functional approach may be an option to treat both, upper airway obstruction and feeding problems, in infants with isolated RS.

Sequência de Pierre Robin: aplicação da técnica de distração osteogênica em pacientes como abordagem terapêutica / Pierre Robin sequence: application of the osteogenic distraction technique in patients as a therapeutic approach

Introdução: Pierre Robin, em 1923, descreveu a sequência das malformações e as correlacionou com os sinais clínicos de insuficiência respiratória, o que trouxe a constatação da necessidade de tratamento, muitas vezes urgente. A conduta terapêutica deve ser individualizada para cada caso e respeitar o quadro apresentado pelo paciente. Objetivo: O presente estudo consiste em uma revisão sobre a Sequência de Pierre Robin e sua abordagem terapêutica, através de distração osteogênica da mandíbula, com a finalidade de demonstrar a efetividade do procedimento. Método: Estudo descritivo de abordagem qualitativa tipo relato de caso. Resultados e conclusão: A aplicação da técnica possibilitou a correção das anormalidades craniofaciais, o que minimizou os prejuízos causados pela síndrome (AU)

Introduction: In 1923, Pierre Robin described and sequenced the malformations and correlated them with the clinical signs of respiratory failure, which eventually confirmed the need for treatment, often urgent. The therapeutic approach should be individualized for each case and must respect the patient's clinical picture. Aim: The present study consists of a review on the Pierre Robin sequence and its therapeutic approach through osteogenic distraction of the mandible in order to demonstrate the effectiveness of the procedure. Method: A descriptive study with a qualitative approach, case report type. Results and conclusion: The application of the technique made possible the correction of craniofacial abnormalities, which minimized the damage caused by the syndrome (AU)

Non-surgical and surgical interventions for airway obstruction in children with Robin Sequence.

There is widespread lack of consensus regarding treatment of airway obstruction in children with Robin Sequence. This study aimed to systematically summarize outcomes of non-surgical and surgical options to treat airway obstruction in children with Robin Sequence. The authors searched the Medline, EMBASE and CENTRAL databases. Studies primarily on mandibular distraction were excluded. Study quality was appraised with the Methodological Index for Non-Randomized Studies (MINORS) score. Forty-eight studies were included, of which 45 studies had a retrospective non-comparative set up, two studies had a prospective design and one study was a clinical trial. The mean MINORS score was 7.3 (range 3-10). The rates of successful relief of the airway obstruction (SRoAO) were: not available for orthodontic appliance (2 studies, n = 24), 67-100% for nasopharyngeal airway (6 studies, n = 126); 100 % for non-invasive respiratory support (2 studies, n = 12); 70-96% for tongue-lip adhesion (11 studies, n = 277); 50-84% for subperiosteal release of the floor of the mouth (2 studies, n = 47); 100% for mandibular traction (3 studies, n = 133); 100% for tracheostomy (1 study, n = 25). The complication rate ranged from zero to 55%. Although SRoAO rates seemed comparable, high-level evidence remains scarce. Future research should include description of the definition, treatment indication, and objective outcomes.

Glossoptosis.

Glossoptosis causes varying degrees of airway obstruction and feeding difficulties. It can occur as a consequence of micrognathia in Robin Sequence, but can also occur in children with hypotonia. Despite several attempts to classify severity in Robin Sequence patients, taking into account symptoms, presence of concomitant syndromes or malformations, and even endoscopic findings, there is still no general consensus. Furthermore, several management recommendations have been reported without an agreement about indications, efficacy, or risks of each treatment option. The present article provides an overview of clinical presentation, diagnosis, management, and prognosis of patients with glossoptosis.

Upper Airway Computed Tomography Measures and Receipt of Tracheotomy in Infants With Robin Sequence.

IMPORTANCE: Airway management in infants with Robin sequence is challenging. Objective upper airway measures associated with severe airway compromise requiring tracheotomy are needed to guide decision making. OBJECTIVES: To define objective upper airway measures in infants with Robin sequence from craniofacial computed tomography (CT) and to identify those measures in Robin sequence associated with tracheotomy. DESIGN, SETTING, AND PARTICIPANTS: A cohort study (2003 to 2014, over 1-year follow-up) of 37 infants with Robin sequence evaluated for surgical management and 37 selected age- and sex-matched controls without a craniofacial condition conducted in a pediatric institution's craniofacial center. MAIN OUTCOMES AND MEASURES: Define and compare CT-generated upper airway measures in these groups: infants with Robin sequence vs controls, and infants with Robin sequence with vs without tracheotomy. A negative difference signifies lower values for the Robin sequence and tracheotomy groups. Clinical data collected included age and height at time of CT scan, sex, tracheotomy presence, associated syndrome, and laboratory indicators of hypoventilation and hypoxemia. To evaluate interrater reliability, 2 raters performed each measurement in the Robin sequence group. RESULTS: In 74 infants, 17 of 28 measures were different between infants with Robin sequence and those in the control group. Tracheotomy was performed in 14 of 37 (38%) infants with Robin sequence. Infants with tracheotomy more commonly had associated syndromes (12 of 14 [86%] vs 11 of 23 [48%]) and a history of hypoventilation and hypoxemia (13 of 14 [93%] vs 15 of 23 [65%]). Five of the 11 measures associated with tracheotomy were reliable and simpler to measure with the following mean differences (95% CIs) between groups: tongue length, 0.87 (0.26 to 1.48); tongue position relative to palate, 0.83 (0.22 to 1.45); mandibular total length, -0.8 (-1.42 to -0.19); gonial angle, 0.71 (0.08 to 1.34); and inferior pogonial angle, 0.66 (0.02 to 1.29). Using a receiver operating characteristic analysis, a composite score of these 5 measures for predicting tracheotomy risk yielded an area under the curve of 0.83 and achieved 86% sensitivity and 74% specificity. CONCLUSIONS AND RELEVANCE: Computed tomography measures quantifying tongue position and mandibular configuration can identify infants with Robin sequence, and importantly, differentiate those who have severe upper airway compromise requiring tracheotomy. Following validation, these measures can be used for objective upper airway assessment and for expediting clinical decision-making in these challenging cases for which no such tools currently exist.

Síndrome de hipoplasia femoral y facies inusual: reporte de un caso / Femoral hypoplasia-unusual facies syndrome: A case report

Introducción: El síndrome de hipoplasia femoral y facies inusual es una enfermedad rara con expresividad hereditaria variable, aunque se han reportado casos con un patrón autosómico dominante. Afecta particularmente las estructuras de la cara asociado a hipoplasia de fémur. Si bien su etiología no ha sido bien identificada, se ha asociado con diabetes materna, exposición a drogas, infecciones virales, radiaciones y oligohidramnios. Objetivo: Presentar el caso de una recién nacida con este síndrome. Caso clínico: Recién nacida de 41 semanas de gestación con nariz pequeña, labio superior delgado, micrognatia, filtrum largo, implantación baja de orejas, epicanto, cadera displásica con flexión y aducción de miembro inferior derecho y acortamiento del mismo a expensas del muslo. En la imagen radiográfica se encontró hipoplasia de fémur derecho con techo acetabular ipsilateral displásico. Se realizó una evaluación completa por distintos especialistas que descartaron otras malformaciones asociadas. Se programó el alargamiento quirúrgico de miembros inferiores a la edad de 5 meses con la finalidad de que deambule con sus propios pies; paralelamente se inició apoyo con kinesiterapia. Conclusiones: El síndrome de hipoplasia femoral y facies inusual es un padecimiento poco frecuente, que implica la participación de un equipo médico multidisciplinario para su manejo.

Introduction: Femoral hypoplasia-unusual facies syndrome is a rare disease with variable expressivity, although cases have been reported with an autosomal dominant pattern. It particularly affects the structures of the face associated with hypoplasia of the femur. Its aetiology is relatively unknown. However, this syndrome has been associated with maternal diabetes, drug exposure, viral infections, radiation, and oligohydramnios. Objective: The case of a newborn with this syndrome is presented. Clinical case: Newborn of 41 weeks gestation with small nose, thin upper lip, micrognathia, long philtrum, low set ears, epicanthal folds, dysplastic hips showing flexion, and adduction of the right leg, and shortening at the expense of the thigh. X-ray images revealed femoral hypoplasia and dysplastic acetabular roof. Different physicians from other specialties who excluded other associated malformations performed a complete evaluation. Surgical bone lengthening of lower limb is scheduled at 5 months of age, with the purpose that she walks with her own feet; at the same time she began management with kinesiotherapy. Conclusions: Femoral hypoplasia-unusual facies syndrome is a rare condition. A multidisciplinary health care team must treat individuals with femoral hypoplasia-unusual facies syndrome.