clinical problem-1 answer
Expert
opinion: This child has cardiac anomalies, renal anomalies, limb anomalies,
vertebral and rib anomalies, inguinal hernia and a normal karyotype suggests a
nonrandom association of birth defects.
VACTERL is a mnemonic in which the letters V, A, C, T, E, R, and L each stand for one or more type of malformation. VATER / VACTERL is associated with vertebral anomalies / dysgenesis, vascular anomalies, anal atresia, Cardiac anomalies, tracheo-esophageal (T-E) fistula, esophageal atresia, renal anomalies, radial dysplasia, Limb anomalies and Single umbilical artery. Babies who have at least three or more of these individual anomalies are diagnosed as having VACTERL association.
CHARGE ASSOCIATION is seen as Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies.
In this child, VACTERL is the association that seems likely.
VACTERL: There is a wide range of manifestation of VACTERL association so that the exact incidence within the population is not exactly known. 75 percent of patients with VACTERL association have been reported to have congenital heart disease. The most common heart defects seen with VACTERL association are ventricular septal defect (VSD), atrial septal defects and tetralogy of Fallot. About 70 percent of patients with VACTERL association will have vertebral anomalies. Anal atresia or imperforate anus is seen in about 55 percent of patients with VACTERL association. Esophageal atresia with tracheo-esophageal fistula (TE fistula) is seen in about 70 percent of patients with VACTERL association. Renal or kidney defects are seen in approximately 50 percent of patients with VACTERL association. Limb defects occur in up to 70 percent of babies with VACTERL association. Babies with VACTERL association, however, do tend to have normal development and normal intelligence. No specific genetic or chromosome problem has been identified with VACTERL association. VACTERL can be seen with some chromosomal defects such as Trisomy 18 and is more frequently seen in babies of diabetic mothers. VACTERL association, however, is most likely caused by multiple factors.
VACTERL is a mnemonic in which the letters V, A, C, T, E, R, and L each stand for one or more type of malformation. VATER / VACTERL is associated with vertebral anomalies / dysgenesis, vascular anomalies, anal atresia, Cardiac anomalies, tracheo-esophageal (T-E) fistula, esophageal atresia, renal anomalies, radial dysplasia, Limb anomalies and Single umbilical artery. Babies who have at least three or more of these individual anomalies are diagnosed as having VACTERL association.
CHARGE ASSOCIATION is seen as Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies.
In this child, VACTERL is the association that seems likely.
VACTERL: There is a wide range of manifestation of VACTERL association so that the exact incidence within the population is not exactly known. 75 percent of patients with VACTERL association have been reported to have congenital heart disease. The most common heart defects seen with VACTERL association are ventricular septal defect (VSD), atrial septal defects and tetralogy of Fallot. About 70 percent of patients with VACTERL association will have vertebral anomalies. Anal atresia or imperforate anus is seen in about 55 percent of patients with VACTERL association. Esophageal atresia with tracheo-esophageal fistula (TE fistula) is seen in about 70 percent of patients with VACTERL association. Renal or kidney defects are seen in approximately 50 percent of patients with VACTERL association. Limb defects occur in up to 70 percent of babies with VACTERL association. Babies with VACTERL association, however, do tend to have normal development and normal intelligence. No specific genetic or chromosome problem has been identified with VACTERL association. VACTERL can be seen with some chromosomal defects such as Trisomy 18 and is more frequently seen in babies of diabetic mothers. VACTERL association, however, is most likely caused by multiple factors.
see pediatric clinical test by dr amlashour
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