Common Monogenetic Conditions in Newborns
KEY POINTS 1. Considering and making a genetic diagnosis early can help direct evaluation and management in the newborn, leading to better patient care. 2. Significant renal disease and subsequent…
KEY POINTS 1. Considering and making a genetic diagnosis early can help direct evaluation and management in the newborn, leading to better patient care. 2. Significant renal disease and subsequent…
KEY POINTS 1. Inborn errors of metabolism (IEMs) are inherited conditions that block metabolic pathways. As a group, these conditions could be identified in 1 out of every 1500 infants….
KEY POINTS 1. Early diagnosis of abnormalities in the lower extremities is important for normal musculoskeletal and neurologic development. 2. Developmental dysplasia of the hip starts early in the embryonic…
KEY POINTS 1. Fractures and musculoskeletal infections in neonates follow a distinct pathophysiology. 2. The clavicle is the most frequently injured long bone in newborns; the injury occurs most often…
KEY POINTS 1. Anemia is an abnormal, and an unhealthy, reduction in the blood hemoglobin concentration or the hematocrit. There are limitations in our current definitions of anemia, which are…
KEY POINTS 1. Parents with a history of multiple previous fetal/neonatal losses may find it difficult to care for a critically ill newborn infant. The fear of losing yet another…
KEY POINTS 1. Neonates and infants often are treated with medicines that have not been approved by regulatory authorities for use in this age group. 2. The inclusion of infants…
KEY POINTS 1. Perinatal palliative care (PPC) programs are increasing across the U.S. These services exist in a wide variety of settings from health care institutions to community- or faith-based…
KEY POINTS 1. Extracorporeal membrane oxygenation (ECMO) is a potentially life-saving technology for newborns with refractory cardiopulmonary failure of reversible etiology. 2. ECMO involves draining deoxygenated venous blood, extracorporeal oxygenation…
KEY POINTS 1. The processes leading to duodenal atresia and distal atresia are unknown but reflect a general defect in intestinal development. In the past, duodenal atresia was thought to…