RESUMO
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.
Assuntos
Síndrome de Pierre Robin , Obstrução das Vias Respiratórias , Glossoptose , Humanos , Micrognatismo , Síndrome de Pierre Robin/diagnóstico , Síndrome de Pierre Robin/patologia , Síndrome de Pierre Robin/fisiopatologia , Síndrome de Pierre Robin/terapiaRESUMO
Richieri-Costa-Pereira syndrome is a rare autosomal recessive acrofacial dysostosis that has been mainly described in Brazilian individuals. The cardinal features include Robin sequence, cleft mandible, laryngeal anomalies and limb defects. A biallelic expansion of a complex repeated motif in the 5' untranslated region of EIF4A3 has been shown to cause this syndrome, commonly with 15 or 16 repeats. The only patient with mild clinical findings harbored a 14-repeat expansion in 1 allele and a point mutation in the other allele. This proband is described here in more details, as well as is his affected sister, and 5 new individuals with Richieri-Costa-Pereira syndrome, including a patient from England, of African ancestry. This study has expanded the phenotype in this syndrome by the observation of microcephaly, better characterization of skeletal abnormalities, less severe phenotype with only mild facial dysmorphisms and limb anomalies, as well as the absence of cleft mandible, which is a hallmark of the syndrome. Although the most frequent mutation in this study was the recurrent 16-repeat expansion in EIF4A3, there was an overrepresentation of the 14-repeat expansion, with mild phenotypic expression, thus suggesting that the number of these motifs could play a role in phenotypic delineation.
Assuntos
Pé Torto Equinovaro/genética , RNA Helicases DEAD-box/genética , Fator de Iniciação 4A em Eucariotos/genética , Deformidades Congênitas da Mão/genética , Laringe/fisiopatologia , Deformidades Congênitas dos Membros/genética , Síndrome de Pierre Robin/genética , Adolescente , Adulto , Alelos , Brasil/epidemiologia , Criança , Pé Torto Equinovaro/epidemiologia , Pé Torto Equinovaro/fisiopatologia , Expansão das Repetições de DNA/genética , Inglaterra/epidemiologia , Extremidades/fisiopatologia , Feminino , Genótipo , Deformidades Congênitas da Mão/epidemiologia , Deformidades Congênitas da Mão/fisiopatologia , Humanos , Laringe/anormalidades , Deformidades Congênitas dos Membros/fisiopatologia , Masculino , Fenótipo , Síndrome de Pierre Robin/epidemiologia , Síndrome de Pierre Robin/fisiopatologia , Mutação Puntual/genética , Adulto JovemRESUMO
Delta phalanx is a rare abnormality typically associated with additional features. We describe a patient with a phenotype resembling Catel-Manzke syndrome, but with delta phalanx and abnormal vertebrae and ribs. The patient was the only child of half siblings born with a marked prenatal growth deficiency. At 10 years of age, she had a short stature, long face, long and tubular nose with small alae nasi, high palate, short and broad thorax, and short index fingers with radial deviation. There were hyperpigmentations following Blaschko's lines. Radiology showed a proximal delta phalanx in the index finger of hands, abnormal vertebrae, and fused and small ribs. GTG-Banding karyotype and microarray analysis yielded normal results. Exome sequencing identified 25 genes that harbored homozygous variants, but none of these is assumed to be a good candidate to explain (part of) the phenotype. The here described patient may have a new condition, possibly following an autosomal recessive pattern of inheritance, although due to the high degree of consanguinity a compound etiology of the phenotype by variants in various genes may be present as well.
Assuntos
Anormalidades Múltiplas/fisiopatologia , Doenças do Desenvolvimento Ósseo/fisiopatologia , Nanismo/fisiopatologia , Deformidades Congênitas da Mão/fisiopatologia , Síndrome de Pierre Robin/fisiopatologia , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/genética , Doenças do Desenvolvimento Ósseo/diagnóstico , Doenças do Desenvolvimento Ósseo/genética , Criança , Consanguinidade , Nanismo/diagnóstico por imagem , Nanismo/genética , Feminino , Deformidades Congênitas da Mão/diagnóstico por imagem , Deformidades Congênitas da Mão/genética , Humanos , Cariótipo , Linhagem , Fenótipo , Síndrome de Pierre Robin/diagnóstico por imagem , Síndrome de Pierre Robin/genética , Costelas/diagnóstico por imagem , Costelas/patologia , Costelas/fisiopatologia , IrmãosRESUMO
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.
Assuntos
Humanos , Feminino , Gravidez , Recém-Nascido , Síndrome de Pierre Robin/diagnóstico , Anormalidades Múltiplas/diagnóstico , Fêmur/anormalidades , Síndrome de Pierre Robin/fisiopatologia , Síndrome de Pierre Robin/terapia , Complicações na Gravidez/epidemiologia , Anormalidades Múltiplas/fisiopatologia , Anormalidades Múltiplas/terapia , Fêmur/fisiopatologiaRESUMO
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.
Assuntos
Anormalidades Múltiplas/diagnóstico , Fêmur/anormalidades , Síndrome de Pierre Robin/diagnóstico , Anormalidades Múltiplas/fisiopatologia , Anormalidades Múltiplas/terapia , Feminino , Fêmur/fisiopatologia , Humanos , Recém-Nascido , Síndrome de Pierre Robin/fisiopatologia , Síndrome de Pierre Robin/terapia , Gravidez , Complicações na Gravidez/epidemiologiaRESUMO
OBJECTIVE: To evaluate numerically the facial profile of children with isolated Pierre Robin sequence (PRS) and to compare them with a control group that has no pathologies and exhibits regular and balanced facial growth, with no skeletal alterations. PATIENTS: Eighty-three children aged 5 to 10 years (PRS group, n â=â 60; control group, n â=â 23) were selected. SETTING: Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo (HRAC-USP). Children from the control group were taken from the program of Interceptive Orthodontics at HRAC-USP. DESIGN: Angular and ratio analyses of the facial profiles in both groups were realized through digital photographs. The PRS group was subdivided into two groups--complete and incomplete--according to the sagittal extension of the cleft palate, to investigate the possible influence of cleft extension on the face. RESULTS: The facial convexity angle and the facial inferior third angle were considerably higher in the PRS groups than in the control group and were not significantly different between PRS groups. Nasolabial angle did not differ between groups. CONCLUSION: The facial profile was more convex in individuals with PRS than in those with regular facial growth and with no pathology. The mandible was responsible for the convexity of the profile in PRS because of its lack off anterior projection. An important relationship between the extension of the cleft palate and alterations in facial profile in PRS was not observed.
Assuntos
Desenvolvimento Maxilofacial , Síndrome de Pierre Robin/fisiopatologia , Pontos de Referência Anatômicos , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Masculino , FotografaçãoRESUMO
AIM: To study the growth of infants with isolated Robin sequence (IRS) considered being severe cases during the first 6 months of life. METHODS: Twenty infants with IRS, considered being severe cases were followed in a pure prospective longitudinal study. Feeding facilitating techniques were applied to all infants after airway disobstruction and a hypercaloric diet was offered. Weight and length were measured at birth and at 2-month intervals until 6 months of age. RESULTS: The infants with severe IRS under study showed impaired weight and length growth from birth to 6 months of age when the values were compared to the NCHS2000 reference. CONCLUSIONS: Malnutrition persisted in infants with severe IRS during the first 6 months of life despite the use of special diet and techniques developed for clinical recovery of this anomaly.
Assuntos
Desenvolvimento Infantil/fisiologia , Síndrome de Pierre Robin/fisiopatologia , Estatura , Peso Corporal , Feminino , Humanos , Lactente , Recém-Nascido , Estudos Longitudinais , Masculino , Estudos ProspectivosRESUMO
OBJECTIVE: To compare the growth curves (weight and length) of two groups of infants with isolated Robin sequence (RS) treated with nasopharyngeal intubation (NPI), one group receiving a hypercaloric diet and the other receiving a normal diet for age, and compare the growth rates and duration of NPI between the two groups. DESIGN: Prospective longitudinal study. SETTING: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Brazil, 1998 to 2000. PATIENTS: Twenty-three children with isolated RS treated by prolonged NPI. INTERVENTIONS: Nine children received a milk formula supplemented with 5% to 7% glucose polymers and 3% to 5% medium chain triglycerides (group 1), and 14 children received a milk formula only (group 2). Weight and length were measured at birth and every month up to 6 months of life for the construction of weight and length growth curves. The time of use of the nasogastric tube, age at the beginning of NPI, and duration of NPI were also determined. RESULTS: No significant difference in length was observed between the two groups. The mean weight curves obtained for the two groups were below the 50th percentile of the National Center for Health Statistics, but weight gain was higher in group 1. The duration of NPI was shorter in this group. CONCLUSIONS: The hypercaloric diet led to an improvement in nutritional status, which in turn contributed to improved respiratory conditions in isolated RS.
Assuntos
Nutrição Enteral/métodos , Crescimento , Síndrome de Pierre Robin/fisiopatologia , Síndrome de Pierre Robin/terapia , Obstrução das Vias Respiratórias/etiologia , Obstrução das Vias Respiratórias/terapia , Estatura , Peso Corporal , Ingestão de Energia , Humanos , Lactente , Fenômenos Fisiológicos da Nutrição do Lactente , Intubação Gastrointestinal , Síndrome de Pierre Robin/complicações , Estudos ProspectivosRESUMO
OBJECTIVES: To evaluate motor dysfunction in infants with Pierre Robin sequence (PRS) who manifest upper airway obstruction and congenital dysphagia. STUDY DESIGN: Term infants (n = 28) with nonsyndromic PRS were studied between days 15 and 45. Sucking-swallowing electromyography was used to evaluate suction and coordination between the oral and pharyngeal phases of swallowing. Esophageal manometry was used to study the lower esophageal sphincter, esophageal body, and upper esophageal sphincter functions. Manometry results were compared with those of 16 infants with gastroesophageal reflux disease (GERD). RESULTS: Electromyography showed incoordination of sucking and swallowing in 24 of 28 patients. The disorder was mild in 6, moderate in 6, and severe in 12 patients. All patients showed manometry disturbances: incomplete or asynchronous lower sphincter relaxation (15), multipeaked esophageal body waves (17), very high amplitude waves (14), and asynchronous upper sphincter relaxation (19). The frequency of disturbances and mean resting pressures of both lower and upper sphincters were significantly higher than GERD patients. CONCLUSION: In Pierre Robin sequence, sucking-swallowing electromyography and esophageal manometry reveal dysfunction in the motor organization of the tongue, the pharynx, and the esophagus.
Assuntos
Esôfago/fisiopatologia , Faringe/fisiopatologia , Síndrome de Pierre Robin/fisiopatologia , Língua/fisiopatologia , Eletromiografia , Refluxo Gastroesofágico/fisiopatologia , Humanos , Lactente , Manometria , PressãoRESUMO
OBJECTIVE: To study the clinical course of patients with Robin sequence (RS) during the first 6 months of life. DESIGN: A longitudinal prospective study of children with RS. SETTING: Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru-SP, Brazil, 1997 and 1998. PATIENTS: Sixty-two children were studied from hospital admission to 6 months of age. Thirty-three (53.2%) presented with probable isolated RS (PIRS), 25 (40.3%) presented with syndromes or other malformations associated with RS, and 4 (6.5%) presented with RS with neurological involvement. INTERVENTIONS: The type of respiratory tract obstruction was defined by nasopharyngoscopy. The patients with type 1 and type 2 obstruction underwent nasopharyngeal intubation (NPI), and glossopexy was indicated in patients with type 1 obstruction who did not show clinical improvement with this procedure. Tracheostomy was indicated in patients with type 2 obstruction who did not show a good course after NPI, in patients with type 1 obstruction who did not show good course after glossopexy, and in patients with type 3 and type 4 obstruction. RESULTS: Prone position treatment (PPT) or NPI was the definitive treatment in 25 cases (75.8%) of PIRS and in 13 cases (52%) of syndromes or other malformations. Among the children with type 1 obstruction, 24 (51.1%) were submitted exclusively to PPT and 12 (25.5%) to NPI. With the type 2 groups, only one (12.5%) received PPT, and three (37.5%) were treated exclusively with NPI. All 15 infants treated exclusively with NPI (24.4%) presented with good weight, length, and neuromotor development. CONCLUSIONS: Most patients with PIRS and type 1 obstruction improved without surgical intervention. NPI should be the initial treatment in all patients with RS with type 1 and type 2 obstruction who present with important respiratory and feeding difficulties.
Assuntos
Obstrução das Vias Respiratórias/fisiopatologia , Síndrome de Pierre Robin/fisiopatologia , Anormalidades Múltiplas , Obstrução das Vias Respiratórias/classificação , Obstrução das Vias Respiratórias/terapia , Estatura , Peso Corporal , Desenvolvimento Infantil , Endoscopia , Seguimentos , Humanos , Lactente , Recém-Nascido , Intubação Intratraqueal , Estudos Longitudinais , Nasofaringe , Síndrome de Pierre Robin/classificação , Síndrome de Pierre Robin/terapia , Decúbito Ventral , Estudos Prospectivos , Taxa de Sobrevida , Língua/cirurgia , Traqueostomia , Resultado do TratamentoRESUMO
Se describe el tratamiento ortopédico del niño que presenta la "secuencia de Pierre Robin" (anteriormente llamado Síndrome de Pierre Robin) el cual comienza a partir de la primera semana de vida. El tratamiento ortopédico se efectúa con una prótesis de acrílico, cuyo flanco vestibular va adosado al reborde alveolar superior, presentando a nivel del postdaming una prolongación posterior (tipo coleta) que coincide con la fisura. Gracias a ella, la lengua encuentra un punto de apoyo posterosuperior que le permite descender y adelantarse progresivamente solucionando en parte el micrognatismo mandibular y la glosoptosis característica de esta patología, logrando que el niño pueda ser alimentado con biberón. Este recurso terapéutico, sumado al uso de tetinas y chupetes anatómicos y a un tratamiento postural adecuado (posición supino-prono) permiten una correcta alimentación y mejora también los problemas respiratorios característicos de estos niños. El enfoque ortopédico es preparatorio para un exitoso cierre quirúrgico de la fisrua, que complementado con el tratamiento fonoaudiológico y el apoyo psicológico, permiten la rehabilitación de estos niños antes de la edad escolar, mediante un trabajo multi e interdisciplinario
Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Fissura Palatina/terapia , Obturadores Palatinos , Síndrome de Pierre Robin/terapia , Argentina , Planejamento de Assistência ao Paciente , Equipe de Assistência ao Paciente , Postura/fisiologia , Síndrome de Pierre Robin/etiologia , Síndrome de Pierre Robin/fisiopatologia , FonoterapiaRESUMO
Se describe el tratamiento ortopédico del niño que presenta la "secuencia de Pierre Robin" (anteriormente llamado Síndrome de Pierre Robin) el cual comienza a partir de la primera semana de vida. El tratamiento ortopédico se efectúa con una prótesis de acrílico, cuyo flanco vestibular va adosado al reborde alveolar superior, presentando a nivel del postdaming una prolongación posterior (tipo coleta) que coincide con la fisura. Gracias a ella, la lengua encuentra un punto de apoyo posterosuperior que le permite descender y adelantarse progresivamente solucionando en parte el micrognatismo mandibular y la glosoptosis característica de esta patología, logrando que el niño pueda ser alimentado con biberón. Este recurso terapéutico, sumado al uso de tetinas y chupetes anatómicos y a un tratamiento postural adecuado (posición supino-prono) permiten una correcta alimentación y mejora también los problemas respiratorios característicos de estos niños. El enfoque ortopédico es preparatorio para un exitoso cierre quirúrgico de la fisrua, que complementado con el tratamiento fonoaudiológico y el apoyo psicológico, permiten la rehabilitación de estos niños antes de la edad escolar, mediante un trabajo multi e interdisciplinario (AU)