Of the five diseases generally recognised as causing congenital defects, viz., toxoplasmosis, rubella, cy tom egaloviral infection, herpes simplex and syphilis (TORCHES) studied in Malaysia, rubella was found to be the most important. A total of 574 children with features of congenital rubella syndrome (CRS) were examined for rubella-specific 19M (in infants four months and below), and for rube...

Congenital heart defects are the most common birth defects in humans, and those that affect the proper alignment of the outflow tracts and septation of the ventricles are a highly significant cause of morbidity and mortality in infants. A late differentiating population of cardiac progenitors, referred to as the anterior second heart field (AHF), gives rise to the outflow tract and the majority...

Knowledge of the profile of congenital limb defects in a population is important in informing their prevention, management and rehabilitation strategies. The profile displays geographical and ethnic variations. There are few reports from African countries, most of them being case reports. This study aimed at reporting congenital defects of lower limb observed in a rural hospital in Kenya. Recor...

Mortality due to uncomplicated congenital defects of the heart is comparatively infrequent. Cabot's analysis of 1,906 cardiac autopsies shows only seven cases of congenital defects, of which two were clinically recognized and in only one was the death solely due to the cardiac anomaly. Among the congenital cardiac disorders Muir and Brown (1934) consider that interventricular septal defects are...

Fifty-two of the 56 offspring from 90 patients with proven atrioventricular defects were examined. There were five with congenital heart disease. The defects were concordant in three and discordant in two. The mother was the affected propositus in all cases. In this relatively small sample the incidence of congenital heart disease in the offspring of parents with atrioventricular defects was 9....

Congenital heart disease (CHD) is the most prevalent and fatal of all birth defects, occurring in nearly 1 in 100 live births.1 Before the advent of cardiac surgery for congenital cardiac malformations, less than one fifth of children born with such lesions reached adulthood. The progress of surgical management and, more recently, interventional catheterization has allowed an increasing number ...

In the Philippines, congenital anomalies rank among the top 20 causes of death across the life span and are already the third leading cause of death in the infancy period (Philippine Department of Health, 1996). Despite the magnitude of the problem, no formal systematic registration of birth defects has been done in the country up until 1999. Various attempts have been made by different study g...

BACKGROUND Loss-of-function mutations in CHD7 cause Coloboma, Heart Disease, Atresia of Choanae, Retardation of Growth and/or Development, Genital Hypoplasia, and Ear Abnormalities With or Without Deafness (CHARGE) syndrome, a variable combination of multiple congenital malformations including heart defects. Heart defects are reported in 70% to 92% of patients with a CHD7 mutation, but most stu...

O ur understanding of the causes of congenital heart defects has benefited tremendously from state-of-the-art genetic and epigenetic tools. The rapid progress is due in part to the development of novel, high-throughput, cost-effective sequencing technology—so-called next-generation sequenc-ing—that has made it possible to sequence the entire genome or all genes (whole exome sequencing). However...

Background Dextrocardia is a malposition of the heart defined as the right-sided development of the heart. It can increase the likelihood of congenital heart defects or diseases (CHD) and the risk of related morbidities and mortalities. We aimed to determine the frequency of CHDs among Dextrocardia patients. Materials and Methods In a retrospective cross-sectional study the records of patients ...