ABSTRACT
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.
Subject(s)
Humans , De Lange Syndrome/complications , De Lange Syndrome/diagnosis , Infant, Premature , De Lange Syndrome/classification , Early Diagnosis , Diagnosis, DifferentialABSTRACT
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...
Subject(s)
Humans , Female , Infant , De Lange Syndrome/diagnosis , Diagnosis, Differential , De Lange Syndrome/classificationABSTRACT
Cornelia de Lange syndrome is a congenital disease, basically characterized by psychomotor retardation associated with a series of malformations, including mainly skeletal, craniofacial deformities together with gastrointestinal and cardiac malformations. There is no definitive biochemical or chromosomal marker for the prenatal diagnosis of this syndrome. We actually want to present the case of a 10-year-old patient, who was admitted to our clinic for dental pain. The patient had the symptoms of Cornelia de Lange syndrome. During the oral examination of this patient, the patient was found to have the typical symptoms of Cornelia de Lange syndrome, such as micrognathia and delayed eruption in conjunction with the symptoms of the Hutchinson's syndrome, which had never been reported before.
Subject(s)
Child , Humans , Male , De Lange Syndrome/pathology , Tooth/pathologyABSTRACT
Brachmann-de Lange syndrome (BDLS) is a dysmorphic syndrome, including growth deficiency, characteristic facial features, mental retardation, hypertrichosis, and varied malformations of the musculoskeletal system and other organs. Although some cases of BDLS have been reported in Korea, no case has been shown to have the familial incidence. Herein, we report a familial occurrence of BDLS. A three-year-old girl visited our clinic with complaint of thick hairs on her midback since birth. She presented with the characteristic facial features of BDLS and brachydactyly which were also shown in her mother. It was suggested that the mode of transmission to the patient was autosomal dominant inheritance.