View clinical trials related to Congenital Abnormalities.
Filter by:This study will examine blood or other tissue samples from patients with Fraser syndrome and patients with Fryns syndrome to try to identify the gene responsible for these diseases. Fraser syndrome is characterized by congenital abnormalities including cryptophthalmos (lack of eyelid formation), syndactyly (webbed fingers or toes) and abnormal genitalia. Patients may also have abnormalities of the nose, ears and larynx (voice box), cleft lip or palate, and kidney agenesis. Fryns syndrome is characterized by hernia through the diaphragm, cloudy cornea, coarse facial features, cleft lip or palate, abnormal fingers and toes, heart, kidney and brain malformations and hydrocephalus (accumulation of fluid around the brain). This protocol consists of laboratory study only; it does not involve patient care or patient counseling. Patients with Fraser syndrome or Fryns syndrome are eligible for this study. Parents and healthy siblings of patients will also be included for genetic study, and parents of children with undiagnosed multiple congenital anomalies syndromes will be included for comparison study. Participants will provide a blood sample (about 8 to 10 teaspoons from adults; 1 to 3 teaspoons from children) or sample of skin cells collected by swabbing the inner surface of the cheek. Some patients may undergo a skin biopsy, in which a small skin sample (about 1/8-inch in diameter) is surgically removed. The tissue samples will be used to obtain DNA (genetic material) for laboratory testing. A permanent cell line-a collection of cells grown in the laboratory from the original tissue specimen-will also be established to enable additional testing in the future.
Primary Hypothesis: Gulf War veterans will have an equal prevalence or mean level of the following medical and psychological conditions frequently reported in the literature compared to a control group of nondeployed veterans: (1) chronic fatigue syndrome, (2) fibromyalgia, (3) post-traumatic stress disorder, (4) neurologic abnormalities, including peripheral neuropathy and cognitive dysfunction, and (5) general health status.
This is a study to determine the safety and efficacy of liothyronine sodium/triiodothyronine (Triostat), a synthetic thyroid hormone, when given to infants with congenital heart disease during cardiopulmonary bypass surgery.
This project is designed to establish whether pesticides or other environmental agents have a role in the excess birth defects identified in the Red River Valley of Minnesota. In this human study, laboratory based health parameters will be used to key in health survey data. In vitro data will be developed to mechanistic information. Concordant results among these study features will provide a weight of evidence approach.
OBJECTIVES: I. Determine the efficacy of picibanil sclerotherapy in children with macrocystic lymphangioma.
The purpose of this study is to compare the effects of diluted hematocrit (HCT) levels of 35% versus 25% during hypothermic cardiopulmonary bypass (CPB) in infants with d-transposition of the great arteries, a malformation of the heart vessels.
To identify genes involved in the pathogenesis of three types of congenital heart disease, atrial septal defects, paramembranous ventricular septal defects, and atrioventricular canal defects.
To conduct an epidemiologic study of persistent pulmonary hypertension of the newborn ( PPHN) infant.
To identify genes involved in the pathogenesis of congenital heart disease, including atrial septal defects (ASDs), paramembranous ventricular septal defects (VSDs), and atrioventricular canal defects (AVCDs).
To determine genetic mechanisms responsible for congenital cardiovascular malformations.