characterized congenital
Research Topic
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Research problems linked to this topic
- Tetralogy of Fallot (TOF) is an index lesion for all paediatric and congenital heart surgeons.
- Congenital heart disease (CHD) is the most common congenital anomaly in children.
- Secundum atrial septal defects (ASD) are the commonest congenital cardiac abnormality.
- Hypoplastic left heart syndrome (HLHS) is a single-ventricle congenital heart disease that is fatal if left unpalliated.
- Cleft lip and palate is a congenital defect that affects the oral cavity.
- Neural tube defects (NTDs) are birth defects that result from errors in the process of neurulation during development.
- Pulmonary hypoplasia (PH) is a serious condition in newborns with congenital diaphragmatic hernia (CDH).
- Aneuploidy plays a significant role in adverse human health conditions including birth defects, pregnancy wastage and cancer.
- The diaphragm is critical for respiration and separation of the thoracic and abdominal cavities, and defects in diaphragm development are the cause of congenital diaphragmatic hernias (CDH), a common and often lethal birth defect.
- Pathogenic variants in NOTCH2 which encodes a single-pass transmembrane protein have been identified as a cause of several autosomal dominant congenital disorders.
- Anorectal malformations (ARMs) disease is one of the congenital anomalies with an incidence of about 1 in 5000 neonate births, and treatment requires surgical intervention.
- Considerable difficulty is sometimes experienced in categorizing an individual manifesting a complex combination of congenital anomalies, particularly when many of the defects are common to a number of syndromes each of which incorporates an accepted spectrum of variability.