ABSTRACT
El síndrome CHARGE debe su nombre a un acrónimo definido por varios defectos congénitos: coloboma, cardiopatía (heart), atresia de coanas, retraso psicomotor y del crecimiento, genitales anómalos, malformaciones auriculares (ear) y/o sordera. Su causa más frecuente es una mutación del gen de la proteína de unión al cromodominio de la ADN helicasa (CHD7) identificada hasta en un 60 por ciento de los casos y su frecuencia se establece en torno a 1/10.000 nacidos vivos. Presentamos 3 pacientes no relacionados, identificados clínicamente y con distinta mutación en el gen CHD7.
Subject(s)
Humans , Male , Female , Infant, Newborn , Choanal Atresia , Coloboma , Deafness , Heart Diseases , Ear/abnormalities , Psychomotor DisordersABSTRACT
Objetivo: Analizar la mortalidad neonatal precoz en el Instituto Nacional de Perinatología de acuerdo con características perinatales y tiempo de vida. Material y métodos: Análisis de casos en donde se estudiaron las variables: peso, edad gestacional al nacer, causa de muerte y tiempo de vida. Se reportan frecuencias, tasas de mortalidad, tasa de incidencia (por 1,000 nacidos vivos), probabilidad de supervivencia y tablas de sobrevida. Resultados: La tasa de mortalidad fue de 17.13 y la tasa de incidencia de 2.48 muertes/día. Las principales causas de muerte fueron: defectos al nacimiento (34%) e inmadurez (27.8%). De acuerdo con el tiempo de vida, 34.4% de las muertes ocurrieron de 1-59 minutos, 32.4% de 1-23 horas y 33.2% de 1-7 días. Se reporta una relación inversa entre las tasas con el peso y la edad gestacional. La probabilidad de supervivencia fue menor en los menores de 1,000 g y en los menores de 25 semanas de gestación. Conclusiones: La menor mortalidad se reportó en neonatos mayores de 750 g y 26 semanas. Las principales causas de muerte fueron los defectos al nacimiento y la inmadurez.
Objective: The early neonatal mortality was analyzed based on perinatal characteristics and time of neonatal death at the Insituto Nacional de Perinatología. Material and methods: To analyze the cases, we considered birth weight, gestational age, primary causes of death, and time of neonatal death. Rate of neonatal mortality and incidence (per 1,000 live births) and survival tables were reported. Results: The neonatal mortality rate was 17.13; the incidence was 2.48 deaths/day. Congenital birth defects (34%) and immaturity (27%) were the principal causes of death. According to the time of death, 34.4% of the deaths happened in the first 59 minutes, 32.4% from one to 23 hours, and 33.2% from one to seven days. There was an inverse relationship between rates, related with birth weight and gestational age. The probability of survival was less in neonates with a weight less than 1,000 g and below 25 weeks. Conclusions: Those neonates whose birth weight was above 750 g and gestational age above 26 weeks had a low mortality rate. The main causes of death were congenital birth defects and immaturity.
ABSTRACT
Background. Microtia is a malformation of the ear with extreme variability of expression. It is generally seean as an isolated malformation. However, some authors consider it to be a minimal manifestation of the oculo-auriculo-vertebral spectrum (OAVS), wherem, in addition, there are facial, vertebral, and renal abnormalities, among others. Methods. A total of 145 pediatric patients with unilateral or bilateral microtia not considered as part of a syndrome were studied. All patients were subjected to an international clinical examination, a familial history, and radiographic imaging studies for ruling out associated malformations. Patients were classified into two groups: group 1 (60 percent), with isolated microtia; and group 2 (40 percent), considered as OAVS, with microtia associated with hemifacial skeletal microsomia, vertebral and/or renal malformations. Results. No significant differences were found between the groups when the following variables were compared: gender; prescence of unilateral or bilateral microtia; atretic external auditory canal; presence of preauricelar tags; hearing loss of any type, and affection of the seventh cranial nerve, as well as associated malformations of other otgans or systems. There were significant differences in relation to the presence of soft-tissue hemifacial microsomia, more frequently seen in patients with OAVS, because the majority of these patients had bone microsomia. Over 66 percent of the cases were sporadic and the rest were familiar. In 28.3 percent of the cases, the history suggested an autosomal-dominant inheritance pattern, and in 5.5 percent, an autosomal-recessive inheritance pattent, although in some familial cases, multifactorial inheritance could not be ignored . Some members in several familes has isolated microtia, and others had mild characteristic manifestations of OAVS. Conclusions. Our results support the hypothesis that isolated microtia is a minimal expression of OAVS. Therefore, it is recommended that patients with microtia be subjected to intentional studies that search for malformations and physical examinations of firstdegree relatives for adquate genetic counseling and management