Disfagia orofaríngea em crianças com síndrome Cornélia De Lange: série de casos / Orofarineal dysfunction in children with the Cornélia De Lange Syndrome: series of cases / Disfagia orofaríngea en niños con síndrome de Cornelia De Lange: serie de casos

Introdução: A síndrome Cornélia De Lange (CdLS) é caracterizada por ser polimalformativa que envolve anomalias faciais, atraso de crescimento e desenvolvimento psicomotor, alterações comportamentais e malformações associadas. Sabe-se que as crianças acometidas por essa síndrome apresentam alterações de deglutição, mas são poucos os estudos apresentados na literatura devido à raridade da doença, sendo encontrado relato de um caso, e na maioria das vezes, com descrição dos achados. Objetivo: Identificar as alterações de deglutição em crianças com a Síndrome Cornélia de Lange, por meio da videofluoroscopia. Metodologia: Série de Casos, retrospectiva. Trata-se de uma amostra de conveniência com crianças, diagnosticadas com Síndrome Cornélia de Lange, que apresentassem videofluoroscopia da deglutição. Foram excluídos prontuários de pacientes que não estivessem completos. Os dados de caracterização da amostra foram obtidos através de prontuários físicos e os dados de desfecho do estudo através de laudos clínicos de videofluoroscopias da deglutição dos pacientes. Resultados: Dos 6 indivíduos, 5 do sexo masculino, em que 3 (50%) apresentaram aspiração laringotraqueal, de forma silente. A mediana de idade foi de 5,50 meses. Conforme os achados nas videofluoroscopias da deglutição, identificou-se dificuldades de deglutição como escape posterior prematuro de alimento, ejeção ineficiente e dificuldades de formação do bolo alimentar, como atraso no acionamento da reação faríngea, refluxo para nasofaringe, estase em valéculas e seios periformes e aspiração traqueal. Conclusão: Todas as crianças com Síndrome Cornélia de Lange deste estudo apresentaram disfagia em algum grau, e metade delas apresentou aspiração laringotraqueal de forma silente.

Introduction: Cornélia De Lange Syndrome (CdLS) is characterized by being polymalformative that involves facial anomalies, growth and psychomotor development retardation, behavioral changes and associated malformations. It is known that children affected by this syndrome have swallowing disorders, but there are few studies presented in the literature due to the rarity of the disease, with a case report being found and mostly with description of the findings. Objective: To identify swallowing disorders in children with Cornelia de Lange Syndrome, through videofluoroscopy. Methodology: Case series, retrospective. This is a convenience sample with children, diagnosed with Cornelia de Lange Syndrome, who had swallowing videofluoroscopy. Medical records of patients who were not complete were excluded. The sample characterization data were obtained from physical records and the study outcome data through clinical reports of patients' swallowing videofluoroscopies. Results: Of the 6 individuals, 5 were male, in which 3 (50%) had laryngotracheal aspiration, silently. The median age was 5.50 months. According to the findings in the swallowing videofluoroscopies, swallowing difficulties were identified, such as premature posterior escape of food, inefficient ejection and difficulties in the formation of the bolus, such as delay in triggering the pharyngeal reaction, reflux to the nasopharynx, stasis in the valleys and peripheral sinuses and tracheal aspiration. Conclusion: All children with Cornelia de Lange Syndrome in this study had dysphagia to some degree, and half of them had silent laryngotracheal aspiration.;Introducción: El síndrome de Cornélia De Lange (CdLS) se caracteriza por ser polimalformativo que involucra anomalías faciales, retraso del crecimiento y desarrollo psicomotor, cambios de comportamiento y malformaciones asociadas. Se sabe que los niños afectados por este síndrome presentan trastornos de la deglución, pero existen pocos estudios presentados en la literatura debido a la rareza de la enfermedad, encontrándose un reporte de caso y la mayoría de las veces con descripción de los hallazgos.

Objetivo: identificar los trastornos de la deglución en niños con síndrome de Cornelia de Lange, mediante videofluoroscopia. Metodología: Serie de casos, retrospectiva. Se trata de una muestra de conveniencia con niños, diagnosticados de Síndrome de Cornelia de Lange, que habían ingerido videofluoroscopia. Se excluyeron los registros médicos de los pacientes que no estaban completos. Los datos de caracterización de la muestra se obtuvieron de los registros médicos físicos y los datos de los resultados del estudio a través de informes clínicos de videofluoroscopias de deglución de los pacientes. Resultados: De los 6 individuos, 5 eran varones, de los cuales 3 (50%) tenían aspiración laringotraqueal, en silencio. La mediana de edad fue de 5,50 meses. De acuerdo con los hallazgos en las videofluoroscopias de deglución, se identificaron dificultades de deglución, como escape posterior prematuro de alimentos, eyección ineficiente y dificultades en la formación del bolo, como retraso en el desencadenamiento de la reacción faríngea, reflujo a la nasofaringe, estasis en los valles y senos periféricos y aspiración traqueal. Conclusión: Todos los niños con síndrome de Cornelia de Lange en este estudio tenían disfagia en algún grado y la mitad de ellos tenían aspiración laringotraqueal en silencio.

Síndrome de Cornelia de Lange y deficiencias hormonales pituitáricas múltiples, una asociación inusual: Caso clínico / Cornelia de Lange Syndrome and multiple hormonal deficiency, an unusual association: Clinical case

El síndrome de Cornelia de Lange es una enfermedad genética caracterizada por rasgos faciales distintivos, falla de medro, microcefalia y varias malformaciones asociadas. Sus principales alteraciones endocrinológicas son las anomalías genitales. Se presenta un adolescente de 13 años, tratado por neumonía aspirativa complicada y que presentaba el fenotipo del síndrome de Cornelia de Lange, que incluía retraso global del desarrollo, trastorno de succión-deglución, talla baja y alteración del desarrollo sexual. Su edad ósea era muy retrasada, por lo que se realizó un estudio endocrinológico completo. Se le diagnosticaron hipotiroidismo central, deficiencia de la hormona de crecimiento y deficiencia de hormona luteotrópica y folículoestimulante, compatibles con el diagnóstico de deficiencias hormonales pituitáricas múltiples. Tuvo cortisol basal, hormona adrenocorticotrópica y prolactina normales. Recibió suplencia hormonal tiroidea. Es inusual la asociación de este síndrome con deficiencias hormonales pituitáricas múltiples. Se sugiere la evaluación de los distintos ejes endócrinos en estos pacientes.

Cornelia de Lange syndrome is a genetic disease characterized by distinctive facial features, failure to thrive, microcephaly and several malformations associated. Its main endocrinological features are anomalies of the genitalia. We present a 13-year-old boy, who suffered from complicated aspiration pneumonia and showed Cornelia de Lange syndrome phenotype, with global developmental delay, suction-swallowing abnormalities, short stature and abnormal genitalia associated. His bone age was delayed, so he underwent full endocrinological panel. Central hypothyroidism, growth hormone deficiency and low luteinizing hormone-follicle-stimulating hormone levels were observed and multiple pituitary hormone deficiencies diagnosis was made. Basal cortisol, adrenocorticotropic hormone and prolactin levels were normal. He received thyroid hormonal substitution. Multiple pituitary hormone deficiencies are an unusual feature of De Lange syndrome. We suggest evaluating all different endocrine axes in these patients.

Síndrome Cornelia de Lange: reporte de un caso / Cornelia de Lange syndrome: a case report

INTRODUCCIÓN: El Síndrome Cornelia de Lange (SCdL), es un trastorno congénito del desarrollo, se presenta en descendencia de padres consanguíneos. Prevalencia de 0,2 a 1 por 10.000 nacidos vivos. Existe evidencia de cromosomopatías 3q25-29 y 5p13-14. Presenta un fenotipo facial característico con microcefalia, sinofridia, pestañas largas, labios en V-invertida, además de hipertricosis, oligodactilia, retraso del desarrollo psicomotor, y cardiopatías. El objetivo es establecer los antecedentes médicos relevantes para diagnosticar de forma precoz la enfermedad. CASO CLÍNICO: Niña de 16 meses de edad, padres consanguíneos, nacida prematura de 36 semanas, se le diagnostica un SCdL grave, además tiene cardiopatía congénita, riñones poliquísticos, hipoacusia severa, reflujo gastroesofágico complicándose con neumonía por aspiración. DISCUSIÓN: El diagnóstico se realiza con examen físico y cariograma. Considerar el Síndrome Alcohólico Fetal como diagnóstico diferencial. Para el tratamiento, es fundamental seguir las pautas del 2007 para el manejo de individuos con SCdL, así prevenir complicaciones respiratorias.

INTRODUCTION: Cornelia de Lange Syndrome (CdLS), is a congenital developmental disorder, occurs in offspring of consanguineous parents. The prevalence is 0.2 to 1 per 10,000 live births. There are evidence of chromosomopathies 3q25-29 and5p13-14. The affected have a characteristic facial phenotype with microcephaly, synophrys, long eyelashes, V-shaped invertedlips, hypertrichosis, oligodactyly, psychomotor retardation, and heart disease. The aim is to establish the relevant medical background for early diagnosis of the disease. CASE REPORT: Girl, 16 months old, consanguineous parents, born 36 weeks premature, diagnosed with a severe CdLS, congenital heart disease, polycystic kidneys, severe bilateral hearing loss, gastroesophageal reflux complicated by aspiration pneumonia. DISCUSSION: The diagnosis of CdLS is made by physical exam and karyotype. Fetal Alcohol Syndrome is the differential diagnosis. For treatment, it is essential to follow the 2007's guidelines for the management of individuals with CdLS and prevent respiratory complications.

Cornelia de Lange syndrome - a cause of hypertrichosis in children: case report and review of literature

Cornelia de Lange syndrome is a rare developmental disorder characterized by hypertrichosis, low intelligence, delayed milestones and skeletal and dental abnormalities. Gastroesophageal dysfunction, ophthalmologic, cardiac and genitourinary anomalies, learning difficulties, and mental retardation may be present in severe cases. We report a case of this syndrome who presented for laser treatment for the problem of hypertrichosis, and on examination other features of the syndrome were noted

A Korean Case of Cornelia de Lange Syndrome

PURPOSE: Cornelia de Lange syndrome is a rare disease showing characteristic facial appearance, developmental delay, growth retardation, low birth weight, skeletal formation anomaly, hirsutism and various ophthalmologic problems. METHODS: We experienced a case of an 18-year-old female with Cornelia de Lange syndrome showing superficial keratitis with entropion, ptosis, high myopia, lacrimal cutaneous fistula and characteristic facial appearance. She was born with low birth weight, operated for cleft palate and diagnosed with ventricular septal defect. In addition, she showed psychological lag and developmental impairment. RESULTS: We performed entropion correction surgery, administered medical therapy for superficial keratitis and prescribed glasses for her myopia. CONCLUSIONS: This is the first case report on the successful correction of entropion with Cornelia de Lange syndrome in Korea.