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.
Subject(s)
Caregivers/education , Patient Education as Topic/methods , Pierre Robin Syndrome/therapy , Education/methods , Feeding Methods/nursing , Humans , Nursing Theory , Patient Discharge/trends , Patient Education as Topic/standards , Self Care/methodsABSTRACT
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.
Subject(s)
Pierre Robin Syndrome , Airway Obstruction , Glossoptosis , Humans , Micrognathism , Pierre Robin Syndrome/diagnosis , Pierre Robin Syndrome/pathology , Pierre Robin Syndrome/physiopathology , Pierre Robin Syndrome/therapyABSTRACT
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.
Subject(s)
Humans , Pierre Robin Syndrome/therapy , Patient Education as Topic/methods , Caregivers/education , Patient Discharge/trends , Self Care/methods , Nursing Theory , Patient Education as Topic/standards , Education/methods , Feeding Methods/nursingABSTRACT
PURPOSE: To describe the speech of a patient with Pierre Robin Sequence (PRS) and severe speech disorders before and after participating in an Intensive Speech Therapy Program (ISTP). METHODS: The ISTP consisted of two daily sessions of therapy over a 36-week period, resulting in a total of 360 therapy sessions. The sessions included the phases of establishment, generalization, and maintenance. A combination of strategies, such as modified contrast therapy and speech sound perception training, were used to elicit adequate place of articulation. The ISTP addressed correction of place of production of oral consonants and maximization of movement of the pharyngeal walls with a speech bulb reduction program. Therapy targets were addressed at the phonetic level with a gradual increase in the complexity of the productions hierarchically (e.g., syllables, words, phrases, conversation) while simultaneously addressing the velopharyngeal hypodynamism with speech bulb reductions. RESULTS: Re-evaluation after the ISTP revealed normal speech resonance and articulation with the speech bulb. Nasoendoscopic assessment indicated consistent velopharyngeal closure for all oral sounds with the speech bulb in place. CONCLUSION: Intensive speech therapy, combined with the use of the speech bulb, yielded positive outcomes in the rehabilitation of a clinical case with severe speech disorders associated with velopharyngeal dysfunction in Pierre Robin Sequence.
Subject(s)
Pierre Robin Syndrome/therapy , Speech Therapy/methods , Velopharyngeal Insufficiency/therapy , Child , Cleft Palate , Endoscopy , Humans , Male , Pierre Robin Syndrome/diagnostic imaging , Velopharyngeal Insufficiency/physiopathologyABSTRACT
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.
Subject(s)
Humans , Infant , Child, Preschool , Child , Pierre Robin Syndrome/pathology , Pierre Robin Syndrome/therapy , Surgical Procedures, Operative/methods , Surgical Flaps/transplantation , Velopharyngeal Insufficiency/pathology , Cleft Palate/complications , Cleft Palate/pathology , Aftercare , Dysphonia/therapy , Micrognathism/surgery , Micrognathism/pathologyABSTRACT
The study assessed the neurodevelopment of children with isolated Robin sequence (IRS) and evaluated if children treated exclusively with nasopharyngeal intubation (NPI) present delay in neurological development. The prospective and cross-sectional study was conducted at the Hospital for Rehabilitation of Craniofacial Anomalies, Brazil. Children with IRS were divided into two groups according to the type of treatment in early infancy: 38 were treated with NPI (more severe cases) and 24 with postural treatment (less severe cases). Regarding interventions, children were assessed at 2 to 6 years of age using the Denver II Developmental Screening Test (Denver II) and Neurological Evolutionary Examination (NEE). According to Denver II, 73.7% in the NPI group and 79.2% in the postural group presented normal development. This result was similar to the results of different studies in the literature with typical population. Considering all areas of development, there were no significant differences in Denver II between the NPI and postural groups (P = .854). In the NPI group, 89.5% of children and 87.5% in the postural group presented normal development in NEE. Language was the most affected area, as 18.4% and 20.8% of children in NPI and postural group, respectively, presented risk for delay in the Denver II. The increased risk for delay in language area was probably due to anatomical conditions of the muscles involved in speech, and to hearing oscillations, as 47.4% in NPI group and 58.3% in postural group underwent myringotomy. IRS treated with NPI had neurological development similar to those in less severe cases. Children treated exclusively with NPI did not present delay in neurological development.
Subject(s)
Airway Obstruction/etiology , Airway Obstruction/therapy , Intubation/methods , Neurodevelopmental Disorders/diagnosis , Neurodevelopmental Disorders/etiology , Pierre Robin Syndrome/complications , Pierre Robin Syndrome/therapy , Brazil , Child , Child, Preschool , Cross-Sectional Studies , Female , Humans , Infant , Male , Nasopharynx , Prospective Studies , Treatment OutcomeABSTRACT
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)
Subject(s)
Humans , Male , Infant, Newborn , Pierre Robin Syndrome/therapy , Pierre Robin Syndrome/diagnosis , Pierre Robin Syndrome/etiologyABSTRACT
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.
Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Pierre Robin Syndrome/diagnosis , Abnormalities, Multiple/diagnosis , Femur/abnormalities , Pierre Robin Syndrome/physiopathology , Pierre Robin Syndrome/therapy , Pregnancy Complications/epidemiology , Abnormalities, Multiple/physiopathology , Abnormalities, Multiple/therapy , Femur/physiopathologyABSTRACT
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.
Subject(s)
Abnormalities, Multiple/diagnosis , Femur/abnormalities , Pierre Robin Syndrome/diagnosis , Abnormalities, Multiple/physiopathology , Abnormalities, Multiple/therapy , Female , Femur/physiopathology , Humans , Infant, Newborn , Pierre Robin Syndrome/physiopathology , Pierre Robin Syndrome/therapy , Pregnancy , Pregnancy Complications/epidemiologyABSTRACT
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.
Subject(s)
Mandibulofacial Dysostosis/diagnosis , Pierre Robin Syndrome/diagnosis , Fatal Outcome , Humans , Infant , Infant, Newborn , Male , Mandibulofacial Dysostosis/complications , Mandibulofacial Dysostosis/therapy , Pierre Robin Syndrome/complications , Pierre Robin Syndrome/therapy , Respiration, Artificial , TracheostomyABSTRACT
La intubación convencional para la asistencia respiratoria en niños con vía aérea dificultosa puede ser un desafío incluso en manos expertas. Los rápidos avances en la atención respiratoria han reducido la incidencia de intubación traqueal dificultosa y por ende las complicaciones. Sin embargo, en algunos pacientes, todavía ocurren complicaciones graves inesperadas. Describimos el caso de un neonato con secuencia de Pierre Robin con vía aérea dificultosa, que presentó una migración del tubo endotraqueal hacia el esófago luego de haberse desprendido del conector del tubo. Deseamos compartir esta experiencia ya que, de acuerdo con nuestro conocimiento, esta complicación no ha sido comunicada anteriormente en neonatos.
Conventional intubation for pulmonary management in children with a difficult airway may be very challenging even in skilled hands. Rapid advancements in respiratory care have reduced the incidence of difficult tracheal intubation and the incidence of complications have decreased accordingly. However, serious unexpected complications still occur in some patients today. Herein, we describe a syndromic newborn infant with a difficult airway who experienced migration of the endotracheal tube into the esophagus after displacement of the tube connector. We would like to share our experience and contribute to the literature with the presentation of this undesired event. To the best of our knowledge, no such complication has been reported in the neonatal literature before.
Subject(s)
Humans , Infant, Newborn , Male , Equipment Failure , Intubation, Intratracheal/instrumentation , Oxygen Inhalation Therapy , Pierre Robin Syndrome/therapy , Esophagus , Nose , Oxygen Inhalation Therapy/methods , PharynxABSTRACT
Conventional intubation for pulmonary management in children with a difficult airway may be very challenging even in skilled hands. Rapid advancements in respiratory care have reduced the incidence of difficult tracheal intubation and the incidence of complications have decreased accordingly. However, serious unexpected complications still occur in some patients today. Herein, we describe a syndromic newborn infant with a difficult airway who experienced migration of the endotracheal tube into the esophagus after displacement of the tube connector. We would like to share our experience and contribute to the literature with the presentation of this undesired event. To the best of our knowledge, no such complication has been reported in the neonatal literature before.
Subject(s)
Equipment Failure , Intubation, Intratracheal/instrumentation , Oxygen Inhalation Therapy , Pierre Robin Syndrome/therapy , Esophagus , Humans , Infant, Newborn , Male , Nose , Oxygen Inhalation Therapy/methods , PharynxABSTRACT
OBJECTIVES: To determine the underlying genetic diagnosis of Pierre Robin sequence (PRS) in 2 cohorts of individuals, assess the accuracy of genetic evaluation in young infants with PRS, and contrast the interventions provided to children with isolated and syndromic PRS. STUDY DESIGN: The study involved retrospective chart reviews at 2 children's hospitals and a systematic literature review. RESULTS: Approximately 40% of the patients had isolated PRS, and 60% of the patients had additional syndromic features. The patients with PRS with syndromic features required more aggressive medical management. Stickler syndrome was the most common syndromic diagnosis in PRS. The difficulty of making an accurate genetic diagnosis during the neonatal period was demonstrated. CONCLUSION: All infants with PRS should be evaluated to check for the presence of syndromic features, and a longitudinal follow-up is warranted to monitor for the development of any syndromic features.
Subject(s)
Pierre Robin Syndrome/diagnosis , Female , Hospitals, Pediatric , Humans , Infant, Newborn , Male , Pierre Robin Syndrome/genetics , Pierre Robin Syndrome/therapy , Retrospective StudiesABSTRACT
La secuencia de Pierre Robin es una triada compuesta por retromicrognatia, glosoptosis y fisura palatina con una prevalencia de 1:8500. El 40 a 50% son casos aislados, el resto forma parte de patrones malformativos complejos. Nuestro objetivo fue valorar la frecuencia de la secuencia de Pierre Robin como entidad aislada o formando parte de asociaciones malformativas y proponer para ambos grupos un esquema de diagnóstico y de recursos terapéuticos. Se realizó un estudio retrospectivo, descriptivo, de 83 pacientes portadores de secuencia de Pierre Robin de la Sala de Genética del Hospital de Niños "Sup. Sor María Ludovica" de La Plata, entre 1993 y 2009. El 45 % (n=37) fueron formas aisladas y el 55 % (n=46) formas sindrómicas. En este último grupo, las entidades génicas se observaron en 31 niños, siendo el síndrome de Stickler (n=18) y el síndrome de Treacher Collins (n=5) los más frecuentes. El síndrome de Di George (CATCH 22) (n=7) predominó entre las anomalías cromosómicas (n=11) y el misoprostol relacionado con el síndrome de Moebius (n=4) fue el teratógeno predominante. A 9 pacientes del total se les realizó distracción osteogénica (6 pacientes con secuencias de Pierre Robin aisladas y 3 con secuencias de Pierre Robin sindrómica), 2 pacientes de cada grupo fueron traqueostomizados previamente a la distracción. Se utilizaron distractores extraorales de titanio e intraorales de material reabsorbible, lográndose una elongación mandibular entre 15 y 20 mm, en un promedio de 21 días, que permitió evolutivamente la descanulación en tres de los cuatro pacientes traqueostomizados. Concluimos que nuestros datos se correlacionan con los informes bibliográficos. Ante un niño con secuencia de Pierre Robin, sugerimos a los neonatólogos y pediatras realizar un minucioso examen físico para detectar dismorfias y solicitar estudios complementarios orientadores de alguna entidad específica. Estos niños deben ser tratados con un Comité Interdisciplinario de Malformaciones...
The Pierre Robin Sequence is a triad comprising retro-micrognastia, glossoptosis and cleft palate, with a prevalence of 1:8500. In about 40-50% of the cases the presentation is isolated, while in the rest it is a part of a complex malformation syndrome. Our objective was to evaluate the frequency of isolated and non-isolated presentation in patients with Pierre Roben Sequence diagnosed at the Genetics Service of the "Sup. Sor María Ludovica" Children Hospital of La Plata, also proposing a diagnostic and therapeutic scheme for each category. We did a retrospective study analyzing 83 patients with Pierre Robin Sequence which were diagnosed from 1993 to 2009. From these, 45% (n=37) were isolatd presentations, while 55 % (n=46) presented complex patterns. In the last group, the genetic disorders were observed in 31 children, being Stickler syndrome (n=18) and Treacher Collins (n=5) were the most frequent. Di George syndrome (CATCH 22) (n=7) was the predominant chromosomic anomaly (n=11) and misoprostol, relatd to Moebius syndrome (n=4) was the predominant teratogen. Distraction osteogenesis was performed in 9 of all the patients, being 6 with isolated Pierre Robin Sequence and 3 with complex syndormes, with previous tracheostomy in 2 patients of each of these gropus. Both titanium extraoral distractors and reabsorbable intraoral distractors were used, achieving mandibular elongations between 15 and 20 mm after an average fo 21 days; this permitted the extraction of the tracheostomy tube in 3 of the 4 patients. In conclusion, our data present a good correlation with bibliographic reports. Faced with a patient presenting Pierre Robin Sequence, the neonatologist or the pediatrician should perform a thorough physical examination to detect dysmorphic features and order complementary tests which could orient the diagnosis of a specific syndrome. These patients should be analyzed by an Interdisciplinary Craneomaxillofacial Malformation Committee in order to provide...
Subject(s)
Humans , Child , Epidemiology, Descriptive , Follow-Up Studies , Osteogenesis, Distraction/rehabilitation , Patient Care Team , Physical Examination , Retrospective Studies , Pierre Robin Syndrome/pathology , Pierre Robin Syndrome/therapyABSTRACT
La secuencia de Pierre Robin es una tríada compuesta por retromicrognatia, glosoptosis y fisura palatina, con una prevalencia de 1:8500. El 40 a 50% son casos aislados, el resto forma parte de patrones malformativos complejos. Nuestro objetivo fue valorar la frecuencia de la secuencia de Pierre Robin como entidad aislada o formando parte de asociaciones malformativas y proponer para ambos grupos un esquema de diagnóstico y de recursos terapéuticos. Se realizó un estudio retrospectivo, descriptivo, de 83 pacientes portadores de secuencia de Pierre Robin de la Sala de Genética del Hospital de Niños "Sup. Sor María Ludovica" de La Plata, entre 1993 y 2009. El 45% (n=37) fueron formas aisladas y el 55% (n=46) formas sindrómicas. En este último grupo, las entidades génicas se observaron en 31 niños, siendo el síndrome de Stickler (n=18) y el síndrome de Treacher Collins (n=5) los más frecuentes. El síndrome de Di George (CATCH 22) (n=7) predominó entre las anomalías cromosómicas (n=11) y el misoprostol relacionado con el síndrme de Moebius (n=4) fue el teratógeno predominante. A 9 pacientes del total se les realizó distracción osteogénica (6 pacientes con secuencias de Pierre Robin aisladas y 3 con secuencias de Pierre Robin sindrómica), 2 pacientes de cada grupo fueron traqueostomizados previamente a la distracción. Se utilizaron distractores extraorales de titanio e intraorales de material reabsorbible, lográndose una elongación mandibular entre 15 y 20 mm, en un promedio de 21 días, que permitió evolutivamente la descanulación en tres de los cuatro pacientes traqueostomizados. Concluimos que nuestros datos se correlacionan con los informes bibliográficos. Ante un niño con secuencia de Pierre Robin, sugerimos a los neonatólogos y pediatras realizar un minucioso examen físico para detectar dismorfias y solicitar estudios complementarios orientadores de alguna entidad específica. Estos niños deben ser tratados por un Comité Interdisciplinario de Malformaciones Craneomaxilofaciales para definir estrategias de seguimiento y tratamientos clínico-quirúrgicos. Se destaca que la distracción osteogénica es un recurso terapéutico de gran utilidad para estos pacientes
The Pierre Robin Sequence is a triad comprising retro-micrognatia, glossoptosis and cleft palate, with a prevalence of 1:8500. In about 40-50% of the cases the presentation is isolated, while in the rest it is a part of a complex malformation syndrome. Our objective was to evaluate the frequency of isolated and non-isolated presentation in patients with Pierre Robin Sequence diagnosed at the Genetics Service of the "Sup. Sor María Ludovica" Children Hospital of La Plata, also proposing a diagnostic and therapeutic scheme for each category. We did a retrospective study analyzing 83 patients with Pierre Robin Sequence which were diagnosed from 1993 to 2009. From these, 45 % (n=37) were isolated presentations, while 55% (n=46) presented complex patterns. In the last group, the genetic disorders were observed in 31 children, being Stickler syndrome (n=18) and Treacher Collins (n=5) were the most frequent. Di George syndrome (CATCH 22) (n=7) was the predominant chromosomic anomaly (n=11) and misoprostol, related to Moebius syndrome (n=4) was the predominant teratogen. Distraction osteogenesis was performed in 9 of all the patients, being 6 with isolated Pierre Robin Sequence and 3 with complex syndromes, with previous tracheostomy in 2 patients of each of these groups. Both titanium extraoral distractors and reabsorbable intraoral distractors were used, achieving mandibular elongations between 15 and 20 mm after an average of 21 days; this permitted the extraction of the tracheostomy tube in 3 of the 4 patients. In conclusion, our data present a good correlation with bibliographic reports. Faced with a patient presenting Pierre Robin Sequence, the neonatologist or the pediatrician should perform a thorough physical examination to detect dysmorphic features and order complementary tests which could orient the diagnosis of a specific syndrome. These patients should be analyzed by an Interdisciplinary Craniomaxillofacial Malformation Committee in order to provide adequate clinical and surgical treatment, being mandibular osteodistraction a valuable approach in these cases
Subject(s)
Humans , Male , Female , Pierre Robin Syndrome/therapy , Osteogenesis, Distraction/rehabilitationABSTRACT
OBJECTIVE: To study the prevalence of abnormal gastroesophageal reflux in infants with Robin sequence who had severe respiratory obstruction treated with nasopharyngeal intubation and to evaluate the efficacy of nonsurgical treatment. DESIGN: Longitudinal prospective study. SETTING: Hospital de Reabilitação de Anomalias Craniofaciais, University of São Paulo, Brazil. PATIENTS: Twenty infants with severe isolated Robin sequence treated with nasopharyngeal intubation. INTERVENTIONS: We performed 24-hour esophageal pH monitoring on each child at 2, 4, and 6 months of age. Respiratory and feeding status were evaluated. We considered abnormal gastroesophageal reflux as reflux index values above the 95th percentile of the Vandenplas reference for normal children. RESULTS: The prevalence of reflux index above the 95th percentile at the first exam was 6/20, a value significantly higher than the reference (5/103, p < .01). At the second and third exams, reflux index values were decreased. Ninety percent of the infants showed improvement of respiratory difficulty and developed oral feeding capacity. CONCLUSIONS: The prevalence of abnormal gastroesophageal reflux is higher in infants with severe cases of Robin sequence than in normal infants. Nonsurgical procedures improved respiratory and feeding difficulties of most of these infants.
Subject(s)
Gastroesophageal Reflux/etiology , Gastroesophageal Reflux/therapy , Intubation, Gastrointestinal/methods , Pierre Robin Syndrome/complications , Pierre Robin Syndrome/therapy , Brazil/epidemiology , Esophageal pH Monitoring , Female , Gastroesophageal Reflux/epidemiology , Humans , Infant , Infant, Newborn , Longitudinal Studies , Male , Prevalence , Prospective Studies , Statistics, NonparametricABSTRACT
A síndrome de Pierre Robin é uma rara anomalia de desenvolvimento causada por mau posicionamento fetal, caracterizada por micrognatia, glossoptose, palato profundo ou fenda palatina, retrognatia e hipoplasia dos côndilos mandibulares. Desse modo, pode provocar problemas de ordem sistêmica, como obstrução das vias aéreas superiores, desnutrição, refluxo gastroesofágico, broncopneumonia e exaustão. Seu tratamento deve ser supervisionado por uma equipe médica multidisciplinar e deve ser realizado imediatamente após o diagnóstico. O presente trabalho tem por objetivo apresentar um caso típico de síndrome de Pierre Robin em uma criança do sexo feminino, leucoderma, com dois meses de idade e traqueostomizada, tratada através de distração osteogênica mandibular bilateral e de enxerto ósseo autógeno na região de sínfise mentoniana.
The syndrome of Pierre Robin is a rare developmental anomaly caused by bad fetal positioning, characterized by micrognathia, glossoptosis, profound palate or palatine rift, retrognathia and hipoplasy of mandibular condyles. Thus, it can provoke some systemic order problems, like obstruction of the superior airways, malnutrition, gastroesophagic reflux, bronchopneumonia and exhaustion. The treatment should be supervised by a multidisciplinary medical team and is immediately accomplished after the diagnosis. The purpose of the present work is to report a typical case of syndrome of Pierre Robin in a female child, white race, and 2 months-old, tracheotomized treated through bilateral mandibular distraction osteogenesis and bony graft in mandibular symphiseal region.
Subject(s)
Humans , Female , Child , Osteogenesis, Distraction/rehabilitation , Pierre Robin Syndrome/therapyABSTRACT
La secuencia de Pierre Robin constituye un desafío diagnóstico antenatal, el cual se transforma en un desafío terapéutico posterior al nacimiento por la multiplicidad de presentaciones al asociarse con otros síndromes más o menos complejos que provocan problemas en las decisiones de los distintos actores llamados a evaluar la necesidad de corrección quirúrgica o manejo conservador de los niñosque se presentan en forma esporádica en nuestros hospitales. Esta revisión pretende actualizar en forma sucinta los conocimientos sobre patogenia, fisiopatología, manifestaciones clínicas y herramientas terapéuticas con que se cuenta para enfrentar este cuadro.
Subject(s)
Humans , Airway Obstruction/etiology , Airway Obstruction/therapy , Pierre Robin Syndrome/complications , Pierre Robin Syndrome/therapy , Algorithms , Craniofacial Abnormalities/classification , Pierre Robin Syndrome/etiologyABSTRACT
OBJECTIVE: To present a single protocol that might cover both the respiratory and feeding difficulties of neonates and infants with Robin sequence. SOURCES OF DATA: The article was prepared on the basis of the most recent publications available in bibliographic databases and in books that discuss the treatment of Robin sequence, especially the studies conducted at the Hospital for Rehabilitation of Craniofacial Anomalies of Universidade de São Paulo (HRAC/USP). SUMMARY OF THE FINDINGS: We present the morphological and genetic aspects of Robin sequence and concepts about nasopharyngoscopy and its clinical implications; we discuss the treatment of respiratory and feeding difficulties, and we present a single protocol for the treatment of all Robin sequence cases regardless of their severity and complexity. CONCLUSIONS: Robin sequence is not only an anatomic obstructive disorder to be treated with surgical procedures, but knowledge about children s growth and development must be applied by a multidisciplinary team, since this permits the maintenance of airway permeability and of the ability to feed orally, often without the need of surgical procedures and their risks, especially when applied to neonates and small infants.
Subject(s)
Clinical Protocols , Pierre Robin Syndrome/therapy , Deglutition Disorders/therapy , Humans , Pierre Robin Syndrome/genetics , Pierre Robin Syndrome/pathology , Respiration Disorders/therapy , Severity of Illness IndexABSTRACT
OBJETIVO: Apresentar protocolo único que possa atender tanto às dificuldades respiratórias como às dificuldades alimentares dos neonatos e lactentes com seqüência de Robin. FONTE DE DADOS: O artigo foi desenvolvido tomando como base as publicações mais recentes disponíveis em bancos de dados bibliográficos e livros que discutem o tratamento da seqüência de Robin, em especial os estudos realizados no Hospital de Reabilitação de Anomalias Craniofaciais da Universidade de São Paulo (HRAC/USP). SíNTESE DE DADOS: O artigo apresenta os aspectos morfológicos e genéticos da seqüência de Robin e conceitos sobre nasofaringoscopia e suas implicações clínicas, discute o tratamento das dificuldades respiratórias e alimentares e apresenta um protocolo único para atender a todos os casos de seqüência de Robin, independentemente de sua gravidade e complexidade. CONCLUSÕES: A seqüência de Robin não é somente uma patologia obstrutiva anatômica para ser resolvida com procedimentos cirúrgicos, mas os conhecimentos sobre crescimento e desenvolvimento devem ser aplicados por uma equipe multidisciplinar, porque possibilitam a rápida recuperação da permeabilidade das vias aéreas e da capacidade de alimentação oral, evitando-se, muitas vezes, os procedimentos cirúrgicos e seus riscos, principalmente quando realizados em neonatos e lactentes pequenos.