RESUMEN
Cornelia de Lange syndrome is a genetic and clinically heterogeneous entity, caused by at least five genes. It is characterized by short stature, gestalt facies, microcephaly, neurodevelopmental disorders, and other anomalies. In this report, we present a 13-year-old female patient with microcephaly, cleft palate, polydactyly, short stature, triangular facies, frontal bossing, a bulbous nose, an overfolded helix, limited pronosupination, and an anomalous uterus. No neurodevelopmental disorders were reported. A chromosomal microarray analysis of 6.5 million markers was performed in the proband and her parents. The results showed a de novo heterozygous microdeletion of exons 9-14 within RAD21, which confirmed the diagnosis of Cornelia de Lange syndrome type 4. Our patient did not show any neurologic phenotype (until the time of diagnosis), although neurodevelopmental disorders are frequently present in patients with Cornelia de Lange syndrome type 4, and despite carrying a deletion that was larger than previously reported. Therefore, unknown genetic modifiers or intrinsic mechanisms of RAD21 variants may exist and should be studied.
Asunto(s)
Proteínas de Ciclo Celular , Síndrome de Cornelia de Lange , Eliminación de Gen , Humanos , Femenino , Adolescente , Síndrome de Cornelia de Lange/genética , Síndrome de Cornelia de Lange/patología , Proteínas de Ciclo Celular/genética , Análisis por MicromatricesRESUMEN
El síndrome de Cornelia de Lange (SCdL) es un trastorno genético poco frecuente y se atribuye principalmente a mutaciones en los genes NIPBL, SMC3 y SMC1A. Sus principales características clínicas son múltiples anomalías congénitas, dimorfismo facial, hirsutismo, hipertricosis, retraso psicomotor, discapacidad intelectual, restricción del crecimiento prenatal y postnatal, anomalías de manos y pies, así como malformaciones congénitas que afectan a distintos órganos. En pacientes con SCdL es necesario hacer hincapié en la higiene oral debido a la discapacidad intelectual que puede presentarse y asegurarse de que se realiza una adecuada valoración y saneamiento dental de forma periódica con el fin de prevenir enfermedades bucodentales. El objetivo de este reporte de caso es describir el manejo odontológico de un paciente de 10 años con SCdL y revisar las características clínicas y hallazgos radiológicos presentes en la cavidad oral (AU)
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder and is principally attributed to mutations in the NIPBL, SMC3 and SMC1A genes. The main clinical characteristics are multiple congenital anomalies, facial dimorphism, hirsutism, hypertrichosis, psychomotor retardation, intellectual disability, prenatal and postnatal growth restriction, hand and foot anomalies, as well as congenital malformations affecting different organs. In patients with CDLS, it is necessary to focus on oral hygiene due to the intellectual disability that may be present and to ensure that adequate dental valuation and hygiene is routinely performed in order to prevent oral diseases. The aim of this case report is to describe the dental management of a 10-year-old patient with CDLS and review the clinical characteristics and radiological findings that are present in the oral cavity (AU)
Asunto(s)
Humanos , Femenino , Niño , Manifestaciones Bucales , Atención Dental para Enfermos Crónicos/métodos , Síndrome de Cornelia de Lange/terapia , Síndrome de Cornelia de Lange/diagnóstico por imagen , Ortodoncia Correctiva/métodos , Facultades de Odontología , Anomalías Dentarias , Atención Dental para Niños/métodos , Anomalías Maxilofaciales , Síndrome de Cornelia de Lange/patología , MéxicoRESUMEN
Functional brain imaging with brain single photon emission computer tomography (Brain SPECT) has been used for many years in the evaluation of multiple neuro-degenerative and neuro-developmental disorders. Brain SPECT is a nuclear medicine tomographic study performed with a lipophilic radiopharmaceutical labeled with 99mTc-pertechnetate. It is a cerebral perfusion agent that depicts the global and regional perfusion patterns in the cortical gray matter and subcortical structures. Cornelia de Lange syndrome (CdLS) is a rare neuro-developmental and genetic condition, associated to several malformations. There are a limited number of cases reported in the medical literature and few of them report neuro-radiological and/or neuro-pathologic abnormalities. We report a case of a 15 year old patient, clinically diagnosed at birth with CdLS, who presents limited anatomical findings on Computed Tomography and Magnetic Resonance Imaging. To the best of our knowledge, this is the first report of the Brain SPECT findings in this syndrome.
Asunto(s)
Síndrome de Cornelia de Lange/diagnóstico por imagen , Neuroimagen Funcional , Imagen por Resonancia Magnética , Tomografía Computarizada de Emisión de Fotón Único , Adolescente , Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Encéfalo/diagnóstico por imagen , Síndrome de Cornelia de Lange/patología , Síndrome de Cornelia de Lange/psicología , Diagnóstico Diferencial , Humanos , Masculino , Fenotipo , Radiofármacos/farmacocinética , Exametazima de Tecnecio Tc 99m/farmacocinética , Distribución TisularRESUMEN
El Síndrome de Cornelia de Lange (SCL) es un cuadro malformativo poco frecuente, caracterizado por la presencia de retraso del crecimiento, microcefalia, retardo mental, hirsutismo, dismorfias faciales características y defectos en las extremidades. Se estima una incidencia de 1:10.000 a 1:40.000 recién nacidos vivos, siendo la mayoría casos esporádicos, aunque algunos pocos se han publicado con una herencia de tipo autosómico dominante. Existen dos genes responsables del SCL: el NIPBL, que ha sido recientemente identificado y mapeado en 5p13.1, y el SMC1L1 en Xp11.22 p11.21, descubierto también recientemente en varios sujetos afectados y con herencia ligada al X. Mutaciones en el gen NIPBL se han encontrado en el 40 por ciento a 50 por ciento de los pacientes afectados clínicamente por el cuadro. En esta revisión presentamos el caso de una paciente de seis años de edad, con diagnóstico clínico de SCL, con el objetivo de dar a conocer esta patología malformativa, que forma parte del diagnóstico diferencial de los cuadros clínicos con retardo mental.
Cornelia de Lange Syndrome (CdLS) is a rare malformative disease. It is characterized by the presence of growth retardation, microcephaly, mental retardation, hirsutism, facial alterations and defects in the extremities. Incidence is 1:10,000 to 1:40,000 in newborns. Most cases are sporadic, although some cases have been published with autosomal dominant inheritance. Two recently identified genes are responsible for CdLS: NIPBL, located on 5p13.1, and SMC1L1, located on Xp11.22 p11.21 and present in several affected subjects, and with X-linked inheritance. Mutations of NIPBL genes are described in 40 to 50 percent of patients. We present the case of a six year old patient, with clinical diagnosis of CdLS, with the purpose of presenting this malformative disease, which is part of the differential diagnosis of clinical manifestations associated to mental retardation.
Asunto(s)
Humanos , Femenino , Niño , Síndrome de Cornelia de Lange/diagnóstico , Síndrome de Cornelia de Lange/genética , Síndrome de Cornelia de Lange/patología , Cara/anomalías , Discapacidad Intelectual/genética , Trastornos del Crecimiento/genéticaAsunto(s)
Humanos , Femenino , Síndrome de Cornelia de Lange/diagnóstico , Síndrome de Cornelia de Lange/patología , Síndrome de Cornelia de Lange/terapia , Adenoidectomía , Clorhexidina/uso terapéutico , Fluoruros Tópicos/uso terapéutico , Discapacidad Intelectual , Maloclusión , Obstrucción de las Vías Aéreas/cirugía , FonéticaRESUMEN
Five cases with Brachmann-de Lange's syndrome are reported. The main idea is to point out the most important clinical, radiological, anatomico-pathological and genetic characteristics. The first three cases were studied at the Hospital de Especialidades of the I.M.S.S. at Peubla, Pue, while cases 4 and 5 correspond to the Hospital to de zona of the I.M.S.S., at Acapulco, Gro. With the exception of case 4, karyotype studies were carried out in the rest, including the parents, showing normal results. At present, only cases 3 and 5 are alive, since the rest died due to multiple infectious processes. In the first case, the anatomicopathological studies showed new findings, such as a diverticulum in the first portion of the duodenum with aberrant pancreas, absence of the middle lobe of the right lung and bilateral adrenocortical adenomas. Finally, pertinent literature, where it is shown that the etiology is still in darkness and that the world frequency for this syndrome reaches the figure of 353 cases.