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ABSTRACT Purpose: to describe the audiological profile of patients with Cornelia de Lange syndrome (CdLS) in an integrative review of the literature. Methods: after developing the research question, articles were searched in six databases (EMBASE, ISI of Knowledge, LILACS, MEDLINE/PubMed, SciELO, and Scopus) and in sources of information (Google Scholar, OpenGrey, and ProQuest), with the following descriptors: audiology, hearing loss, deafness, hearing disorders, and Cornelia de Lange syndrome. This review was registered in Prospero under number CRD42020191481. National and international studies were considered for analysis, using the PECO acronym. The risk of bias in the studies was analyzed with Joanna Briggs Institute protocols. Then, the studies were described and analyzed. Results: of the 1,080 articles found, 12 met the inclusion criteria. Audiological results showed that individuals with CdLS can have hearing loss - conductive hearing losses were the most frequent impairments, corresponding to 49.20% of individuals with CdLS assessed, followed by sensorineural hearing losses (13.49%). The degrees of hearing loss ranged from mild to profound. Conclusion: individuals presented with CdLS often have hearing loss, mainly due to middle ear changes, with degrees ranging from mild to profound.
RESUMO Objetivo: descrever o perfil audiológico de pacientes com Síndrome de Cornelia de Lange (SCdL), por meio de uma revisão integrativa da literatura. Métodos: após formulação da pergunta, realizou-se uma busca em seis bases de dados (Embase, ISI of Knowledge, Lilacs, Medline/PubMed, Scielo e Scopus), e fontes de informação (Google Acadêmico, OpenGrey e Proquest), com os descritores: audiologia, perda auditiva, surdez, transtornos da audição e Síndrome de Cornelia de Lange. Esta revisão foi cadastrada no Próspero, sob número CRD42020191481. Foram considerados para análise, estudos nacionais e internacionais, utilizando o direcionamento do acrônimo PECO. Para análise do risco de viés dos estudos, utilizou-se os protocolos do Instituto Joanna Briggs. Após isso, os estudos foram descritos e analisados. Resultados: dos 1.080 artigos encontrados, 12 atenderam aos critérios de inclusão. Nos resultados audiológicos, constatou-se que indivíduos com SCdL podem apresentar perda auditiva, sendo que o comprometimento pela perda auditiva condutiva foi o mais frequente, correspondendo a 49,20% dos indivíduos com SCdL avaliados, seguido pela perda auditiva neurossensorial (13,49%). O grau de perda auditiva variou de leve à profundo. Conclusão: indivíduos com SCdL frequentemente apresentam perda auditiva, decorrente principalmente de alterações de orelha média, com graus variando de leve a profundo.
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BACKGROUND: Cornelia de Lange syndrome (CdLS) comprises a recognizable pattern of multiple congenital anomalies caused by variants of the DNA cohesion complex. Affected individuals may display a wide range of phenotypic severity, even within the same family. METHODS: Exome sequencing and confirmatory Sanger sequencing showed the same previously described p.Arg629Ter NIPBL variant in two half-brothers affected with CdLS. Clinical evaluations were obtained in a pro bono genetics clinic. RESULTS: One brother had relatively mild proportionate limb shortening; the other had complete bilateral hypogenesis of the upper arm with absence of lower arm structures, terminal transverse defects, and no digit remnants. His complex lower limb presentation included long bone deficiency and a deviated left foot. The mother had intellectual disability and microcephaly but lacked facial features diagnostic of the CdLS. CONCLUSION: We describe a collaboration between a pediatrics team from a resource-limited nation and USA-based medical geneticists. Reports describing individuals of West Indian ancestry are rarely found in the medical literature. Here, we present a family of Afro-Caribbean ancestry with CdLS presenting with phenotypic variability, including unusual lower limb abnormalities. The observation of this novel family adds to our knowledge of the phenotypic and molecular aspects of CdLS.
Asunto(s)
Síndrome de Cornelia de Lange/genética , Fenotipo , Adulto , Proteínas de Ciclo Celular/genética , Niño , Síndrome de Cornelia de Lange/diagnóstico , Femenino , Pruebas Genéticas , Humanos , Masculino , Mutación , Linaje , Secuenciación del ExomaRESUMEN
Background: the Cornelia de Lange Syndrome (CDLs) is a rare and complex syndrome characterized, basically, by psychomotor retardation associated with a number of congenital malformations. Aims: this paper reports the case of an 11-year-old female child diagnosed with Cornelia de Lange Syndrome (CdLS) and her successful dental management. Case report: the patient had severe mental retardation, definite negative behavior and the clinical findings included oral and physical changes. The patient's oral hygiene was deficient with the presence of calculus and gingivitis, besides several active caries lesions in permanent and deciduous dental elements. The treatment consisted in guidance for caregivers about oral hygiene and diet, and the dental procedures were performed under general anesthesia. Currently, the patient is accompanied by monthly follow-ups. Conclusions: the lack of knowledge about oral hygiene and cariogenic diets was identified as a one of the reasons for the oral diseases present. Due to the need to care for the other more serious and complex health problems, the oral diseases had evolved faster than usual and thus were difficult to treat and maintain thereafter. Under such conditions, the dentist plays a key role within a multidisciplinary team. From the guidance and knowledge provided in the dental clinic, there was a significant improvement in the life quality of the child and her family
Asunto(s)
Humanos , Femenino , Niño , Síndrome de Cornelia de Lange , Trastornos MentalesRESUMEN
Se presentó un paciente de un año de edad con síndrome Cornelia de Lange, único recibido en el Servicio de Rehabilitación del Policlínico Docente René Vallejo Ortiz del municipio Manzanillo, provincia Granma, con signos evidentes de retraso del desarrollo psicomotor, remitido al servicio por su médico de familia cuando tenía seis meses de nacido. Para su tratamiento se emplearon técnicas específicas de la estimulación temprana, se lograron pequeños avances en su desarrollo motor y cognitivo, aunque no solo depende de la rehabilitación, sino también del entorno familiar en el cual se va desarrollando el niño. Se lograron pequeños avances motores en el paciente como: sostén cefálico, abertura de las manos y seguimiento de los objetos con la mirada, el paciente continúa rehabilitándose en el servicio de fisiatría.
A one -year-old patient with Cornelia de Lange syndrome (SCdL) was presented in this article, who was the only one attended in the service of rehabilitation of the René Vallejo Ortiz teaching polyclinic of Manzanillo municipality, Granma province. The patient had evident signs of late psychomotor development, so he was referred to this service by the family doctor when he was six months of age. For the treatment, specific techniques of early stimulation were used; small advances have been achieved regarding motor and cognitive development, although it not only depends on the rehabilitation, but also depends on the family environment, in which the infant is developing. Not many motors progresses were achieved in the patient such as: cephalic support, opening of the hands and objects pursuit followed by the eyes. The patient continues rehabilitating in the physiotherapy service.
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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.
Asunto(s)
Humanos , Masculino , Adolescente , Síndrome de Cornelia de Lange/complicaciones , Síndrome de Cornelia de Lange/diagnóstico , Hipopituitarismo/complicaciones , Hipopituitarismo/diagnóstico , FenotipoRESUMEN
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.
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.
Asunto(s)
Síndrome de Cornelia de Lange/complicaciones , Hipopituitarismo/complicaciones , Adolescente , Síndrome de Cornelia de Lange/diagnóstico , Humanos , Hipopituitarismo/diagnóstico , Masculino , FenotipoRESUMEN
En 1933, una pediatra holandesa, la Dra. Cornelia de Lange, describía dos niños con rasgos similares, hoy en día es ella a quien se le reconoce el haber descrito los síntomas que abarcan el síndrome que lleva su nombre. Es un trastorno malformativo múltiple congénito, se determina por sus características faciales en asociación con retraso del crecimiento pre y postnatal, retraso mental de nivel variable, en algunos casos, anomalías de las partes superiores, muchos de los síntomas se pueden mostrar en el nacimiento y a muy temprana edad. El proceso de atención de enfermería, es el método científico de actuación de los profesionales de Enfermería, vinculado a una base teórica que desarrollan habilidades analíticas que aplicadas en la práctica, repercuten en la mejoría de los pacientes. Se realizó este trabajo con el objetivo de presentar un caso poco frecuente del síndrome de Cornelia de Lange, ejecutando el proceso de atención de Enfermería vinculado al modelo teórico de Ida Orlando. Se trató de una paciente de 10 meses de edad, sexo femenino, raza blanca, que ingresó a los dos meses de nacida en la sala de terapia intensiva del Hospital Pediátrico Provincial Eliseo Noel Caamaño, de Matanzas. La vinculación de la teoría de Ida Orlando a este proceso de atención de Enfermería permitió una atención integral al individuo enfermo, y desarrolló las habilidades prácticas de la asistencia de Enfermería, además de fomentar el razonamiento critico en aras de brindar cuidados con calidad y enfoque científico.
In 1933, a Dutch pediatrician, PhD Cornelia de Lange described two children with similar characteristics. Nowadays she is recognized as the one who described the symptoms encompassing the syndrome named after her. It is a congenital multiple malformative disorder, determined by its facial characteristics associated to pre and postnatal grow retardation, mental retardation of variable level, and, in some cases, anomalies of the upper parts. Many of the symptoms appear at birth and at early ages. The process of nursery care is the scientific method ruling Nursery professionals’ performance, related to a theoretical basis and developing analytical skills that, practically applied, strike on patients’ improvement. This work was carried out with the aim of presenting a few frequent case of Cornelia de Lange Syndrome, performing the Nursery care process according to Ida Orlando theoretical model. It deals with female, white, 10-months patient who entered the Intensive Care Service of the Provincial Pediatric Hospital “Eliseo Noel Caamaño”, of Matanzas when she was two months. Relating Ida Rolando’s theory to this Nursery care process allowed the patient’s integral care, and developed the practical skills of Nursery care, besides promoting the critical reasoning for the sake giving a quality and scientifically focused care.
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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.
Asunto(s)
Humanos , Síndrome de Cornelia de Lange/complicaciones , Síndrome de Cornelia de Lange/diagnóstico , Recien Nacido Prematuro , Síndrome de Cornelia de Lange/clasificación , Diagnóstico Precoz , Diagnóstico DiferencialRESUMEN
El Síndrome Cornelia de Lange (SCdL), es un trastorno congénito del desarrollo que se presenta en descendencia de padres consanguíneos. Prevalencia de 0,2 a 1 por10.000 nacidos vivos. Existe evidencia de cromosomopatías3q25-29 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 SCdL grave, además presenta cardiopatía congénita, riñones poliquísticos, hipoacusia severa y 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, y así prevenir complicaciones respiratorias...
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 inverted lips, 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, 16months 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 2007s guidelines for the management of individuals with CdLS and prevent respiratory complications...
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Humanos , Femenino , Lactante , Síndrome de Cornelia de Lange/diagnóstico , Diagnóstico Diferencial , Síndrome de Cornelia de Lange/clasificaciónRESUMEN
Cornelia de Lange Syndrome (CdLS) is a congenital autosomal dominant (NIPBL, SMC3 and RAD21) or X-linked (SMC1A and HDAC8) disorder characterized by facial dysmorphism, pre and postnatal growth retardation, developmental delay and/or intellectual disability, and multiorgan involvement. Musculoskeletal malformations are usually bilateral and affect mainly the upper limbs; the range goes from brachyclinodactyly to severe reduction defects. Instead lower extremities are usually less and mildly involved. Here, we report on a 3-year-old Senegalese boy with typical craniofacial CdLS features, pre and postnatal growth retardation, atrial septal defect, developmental delay and right ipsilateral limb malformations, consistent with oligodactyly of the 3rd and 4th fingers, tibial agenesis and fibula hypoplasia. Exome sequencing and Sanger sequencing showed a novel missense mutation in NIPBL gene (c.6647A>G; p.(Tyr2216Cys)), which affects a conserved residue located within NIPBL HEAT repeat elements. Pyrosequencing analysis of NIPBL gene, disclosed similar levels of wild-type and mutated alleles in DNA and RNA samples from all tissues analyzed (oral mucosa epithelial cells, peripheral blood leukocytes and fibroblasts). These findings indicated the absence of somatic mosaicism, despite of the segmental asymmetry of the limbs, and confirmed biallelic expression for NIPBL transcripts, respectively. Additionally, conditions like Split-hand/foot malformation with long-bone deficiency secondary to duplication of BHLHA9 gene have been ruled out by the array-CGH and MLPA analysis. To our knowledge, this is the first CdLS patient described with major ipsilateral malformations of both the upper and lower extremities, that even though this finding could be due to a random event, expands the spectrum of limb reduction defects in CdLS.
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Síndrome de Cornelia de Lange/diagnóstico , Síndrome de Cornelia de Lange/genética , Anomalías Musculoesqueléticas/genética , Mutación , Fenotipo , Proteínas/genética , Alelos , Secuencia de Aminoácidos , Proteínas de Ciclo Celular , Hibridación Genómica Comparativa , Exoma , Orden Génico , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Lactante , Masculino , Modelos Moleculares , Datos de Secuencia Molecular , Linaje , Conformación Proteica , Proteínas/química , Alineación de SecuenciaAsunto(s)
Humanos , Masculino , Femenino , Preescolar , Niño , Reflujo Gastroesofágico/cirugía , Esofagoscopía/métodos , Síndrome de Cornelia de Lange/complicaciones , Reflujo Gastroesofágico/etiología , Reflujo Gastroesofágico/diagnóstico por imagen , Fundoplicación/métodos , Estenosis Esofágica/cirugía , Estenosis Esofágica/etiologíaRESUMEN
A Síndrome Cornélia de Lange é uma anomalia congênita rara, caracterizando-se por aparência facial típica, atraso do crescimento e desenvolvimento, deficiência psicomotora, problemas comportamentais e anomalias estruturais dos membros. Este trabalho apresenta um caso desta síndrome em paciente de 9 anos, atendida em um centro odontológico especializado, apresentando como características físicas fácies típica, baixa estatura com retardo do crescimento generalizado, clinodactilia e hipertricose. Em relação às características orais observamos atraso na erupção dentária, diastema, palato ogival e biprotusão. O tratamento odontológico foi realizado a nível ambulatorial, sem anestesia geral, após sessões de condicionamento. A paciente encontra-se em acompanhamento, com boa saúde geral e bucal. Uma equipe multiprofissional deve estar envolvida na assistência à criança com Síndrome de Cornélia de Lange, de forma interdisciplinar, seguindo-se um protocolo clinico individualizado a cada caso, atendendo às necessidades do individuo especial e proporcionando-lhe uma melhor qualidade de vida
The Cornelia de Lange Syndrome is a rare congenital anomaly, characterized by typical facial appearance, delayed growth and development, psychomotor disabilities, behavioral problems and structural defects of the limbs. This paper presents a case of this syndrome in a patient with 9 years old, assisted in a specialized dental center, and showing physical characteristics with typical facies, short stature with generalized growth retardation, clinodactyly and hypertrichosis. Regarding the oral characteristics it was observed delayed tooth eruption, diastema, ogival palate and biprotrusion. The dental treatment was performed in ambulatory level without general anesthesia, after sessions of conditioning. The patient is under monitoring, with oral and general good healt. A team should be involved in assisting the child with Cornelia de Lange Syndrome, in a interdisciplinary way, following a clinical protocol for each individual case, taking into account the special needs of the individual and giving him a better quality of life
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Humanos , Femenino , Niño , Atención Dental para Niños , Atención Dental para la Persona con Discapacidad , Discapacidad Intelectual , Discapacidades del Desarrollo , Insuficiencia de Crecimiento , Síndrome de Cornelia de LangeRESUMEN
Aún en nuestros días no se puede afirmar a ciencia cierta cual es la etiología del Síndrome de Cornelia de Lange aunque día a día se realizan avances en ese aspecto. El diagnóstico es clínico basándose en reconocer oportunamente los rasgos fenotípicos faciales característicos, retardo del crecimiento intrauterino y postnatal, anormalidades en las extremidades, y retraso mental. El rango y la severidad de estas alteraciones pueden variar mucho de unos casos a otros. En razón de la las múltiples necesidades y posibles complicaciones el manejo de estos pacientes debe ser multidisciplinario. Se presenta el caso de un niño admitido en el servicio de pediatría, del Hospital del niño Manuel Ascencio Villarroel de Cochabamba, Bolivia.
In our days it is not even possible to be affirmed for sure which is the etiology of the Cornelia de Lange's Syndrome although day to day advances are made in that aspect. The diagnostic is clinical being based on recognizing the fenotípics characteristic of face, retardation of the intrauterine and postnatal growth, abnormalities in the extremities, and mental delay. The rank and the severity of these alterations can vary much some cases to others. In regard to the multiple necessities and possible complications handling of these patients it must be multidisciplinary. The case of a boy admitted in the service of pediatric appears, of the Hospital del niño Manuel Ascencio Villarroel de Cochabamba, Bolivia.
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Síndrome de Cornelia de LangeRESUMEN
Introducción: El síndrome de Cornelia de Lange es poco frecuente, pero tiene múltiples malformaciones. Se caracteriza por hipertricosis en la cara, el labio superior delgado, micromelia, restricción del crecimiento intrauterino y retraso en el desarrollo postnatal. Este síndrome presenta expresividad variable y su etiología aún se desconoce. Casi todos los casos son esporádicos, y su diagnóstico es fundamentalmente clínico. Caso clínico: Recién nacido de madre primigestante de 16 años, con embarazo de 35 semanas. En las ecografías obstétricas se encontró restricción del crecimiento intrauterino simétrico severo, oligohidramnios y compromiso en la circulación de las arterias umbilical y cerebral media. Por estos hallazgos se le hizo cesárea en el Hospital Universitario del Valle. El recién nacido falleció a los 20 minutos; 6 horas después se efectuó la autopsia. Discusión: Los hallazgos en la autopsia fetal, los rayos X, el cariotipo y la historia clínica de la madre permitieron hacer el diagnóstico de síndrome Cornelia de Lange tipo I o forma clásica. Con base en la revisión de la literatura, se seleccionaron las características que sugieren la identificación en la ecografía obstétrica y el examen físico del recién nacido para hacer un mejor diagnóstico.
Introduction: Cornelia of Lange syndrome is an unusual polimalformative disorder that shows facial hypertrichosis, thin upper lip, micromelic extremities, intra-uterine growth restriction and postnatal growth retardation. This syndrome shows wide phenotypical findings and its etiology remains unknown. Most of the cases are sporadic and the diagnosis is fundamentally a clinical one. Clinical case: This is the case of a new born product of a G1 P0 A0, 16 year-old mother on her third trimester of pregnancy. Ultrasound showed symmetrical and severe intra-uterine growth restriction, oligohydramnios and altered circulation of the umbilical and cerebral arteries. Because of these findings, a cesarean section was performed at the Hospital of Universidad del Valle. The new born died after twenty minutes, and the autopsy was done 6 hours later. Discussion: The findings of the autopsy, radiology, kariotype and mothers clinical history indicated that this corresponded to a Cornelia of Lange syndrome type I or classic type. In accordance with literature review, features suggesting this entity in the obstetric sonography and in physical examination of the new born were selected since they can lead to an accurate diagnosis.
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Recién Nacido , Autopsia , Síndrome de Cornelia de Lange , Extremidad Superior/lesiones , Retardo del Crecimiento Fetal , Atención Perinatal , Mortalidad PerinatalRESUMEN
El Síndrome de Cornelia de Lange es un trastorno cromosómico severo e infrecuente en nuestro medio. Para su tratamiento óptimo, es preciso establecer el diagnóstico clínico temprano basándonos en las características fenotípicas más comunes y así permitir ubicar oportunidades de apoyo y manejo a largo plazo para estos pacientes. Presentamos el caso clínico de un recién nacido admitido al serviciode pediatría y neonatología del Hospital Juan XXIII de La Paz, Bolivia. Se hace un detalle de características clínicas y una discusión de algunos aspectos importantes de esta enfermedad.
Cornelia de Lange Syndrorne is a severe chromosomal anomaly infrequently seen in Bolivia. In order to offer the best treatment currently available, it is important to make an early and correct diagnosis based on the most commonly encountered pheonotypical characteristics and in this manner, establish longterm support and follow up for these patients. We present the case of a neonate admitted to the pediatric and neonatology service at Juan XXIII Hospital in La Paz, Bolivia and a discussion of some of the important features this syndrome encompasses.