DESCRIPTION A preterm (33 weeks) male neonate was born to a 34-year-old mother by caesarean section. The mother had a history of chronic hypertension, type 1 diabetes mellitus, stroke and asthma. Her medications included enoxaparin, insulin, nifedipine, methyldopa, inhaled albuterol and inhaled corticosteroids. She received regular prenatal care. The obstetric ultrasound done at 21 weeks of ges...

Two hundred forty-five patients less than 15 days of age with transposition of the great arteries with or without a ventricular septal defect or pulmonary stenosis were entered into an ongoing 20 institution treatment study between January 1, 1985 and June 1, 1986. Complete follow-up is available on all patients. The ventricular septal defect narrowed in only 1 of 36 patients with combined tran...

In most epidemilogical studies, the problem of confounding adds to the uncertainty in conclusions drawn. This is also true for studies on the effect of maternal drug use on birth defect risks. This paper describes various types of such confounders and discusses methods to identify and adjust for them. Such confounders can be found in maternal characteristics like age, parity, smoking, use of al...

Brittle bone disease (Osteogenesis imperfecta first defined by McKusick in 1956, is a disease that causes extremely fragile bones. It is a (OI)), congenital disease meaning that it is present during birth. It is often caused by a defect in the gene that produces type I collagen an important building block of bone and the most abundant protein found in the body. This gene can be affected in many...

Congenital Heart Defect Awareness Week is observed each year during February 7-14 to promote awareness and education about congenital heart defects (CHDs). CHDs affect approximately one in 100 births every year in the United States and are the most common type of birth defect (1,2). Heart defects are conditions that persons live with throughout their lives; an estimated 1 million children and 1...

A premature neonate with gestational age of 32 weeks and birth body weight of 1650 grams was diagnosed to have type A interrupted aortic arch, perimembranous type ventricular septal defect, atrial septal defect, and patent ductus arteriosus. One-stage complete reconstruction of aortic arch and concomitant repair of intracardiac defects was performed at age of 13 days with body weight of 1600 gr...

Over a 3-year period of observation, the electrocardiogram in an adult patient with an ostium primum atrial septal defect changed from first-degree atrioventricular block alone to right bundle-branch block and left-axis deviation (left anterior hemiblock) with variable atrioventricular block. Coronary atherosclerosis was excluded by selective coronary arteriography. Although right bundle-branch...

A Syrian family is described with three children who had inherited selective vitamin B12 malabsorption associated with proteinuria. (Imerslund-Grasbeck syndrome). Although inherited the defect was apparently not present at birth. A third child had less severe vitamin B12 malabsorption, was not vitamin B12 deficient and had no proteinuria. Studies on two of the affected children with subcellular...

Down syndrome (DS) is the most common chromosomal abnormality, affecting 1 in 700 infants born yearly in the United States.1 The birth prevalence of DS varies internationally among populations, likely due to variations in maternal age, race/ethnicity, use of prenatal screening, and terminations of affected pregnancies.2, 3 Approximately half of all infants born with DS also have a congenital he...

Holt-Oram syndrome is clinically characterized by morphological abnormalities of the upper limbs and congenital cardiac defects. Although the disease is congenital, the diagnosis may only be made later in life. It is a rare autosomal dominant disorder, caused by a mutation in the TBX5 gene located on chromosome 12, but sporadic cases have also been reported. We describe the case of a 75-year-ol...