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2.849  Articles
1 of 286 pages  |  10  records  |  more records»
Background: Congenital anomaly is a disease of structural or functional alteration since birth. The cause of congenital anomaly is genetic, environtment, and unknown. The cause of congenital anomaly is unknown, made congenital anomaly is difficult to dete... see more

Phelan-McDermid syndrome (PMS) or deletion 22q13 syndrome is a rare genetic syndrome resulting from loss of 22q13 region involving the SHANK3 gene. Main features are neonatal hypotonia, global developmental delay, absent to severely delayed speech and min... see more

Scrotoschisis is a congenital extrusion of the testis through a defect in the scrotum. The condition is extremely rare, with only a few cases reported in the literature. We present 2 full term neonates one of whom had bilateral and the other right scrotos... see more

Congenital dacryocystocele (CD) is a rare anomaly of the medial region of the orbit, caused by distal at the level of the valve of Hasner and proximal at the level of the valve of Rosenmuller obstruction of the lacrimal system. It may present as isolated ... see more

Ebstein anomaly is the fourth most frequent cyanotic heart disease in the neonatal period, and its clinical course is slow compared to other diseases, which in turn results in late diagnosis of this condition. We present a case of a 37-year-old man who co... see more

Unicuspid aortic valve is a rare congenital abnormality with a prevalence of 0.02% in the adult population. Left ventricular noncompaction is another congenital anomaly with an incidence of 0.05%. Unicuspid aortic valve with severe aortic regurgitation an... see more

Congenital external canal atresia is one of the congenital ear anomalies that can occur in patients. Similarly, congenital cholesteatoma is also another congenital disease that is often diagnosed in early adulthood. Both the above-mentioned diseases can o... see more

Introduction: The prevalence at birth of congenital heart disease in Portugal is 8.3/1000 births; undetected critical congenital heart disease may result in adverse outcomes for the fetus/newborn infant. This study describes the reported cases of con... see more

Congenital absence of aortic valve cusps is an extremely rare congenital heart malformation. The absence of aortic valve cusps leads tosevere aortic regurgitation with resultant rapid and progressive heart failure and growth retardation in the fetus. Cong... see more

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