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Shone’s syndrome is a rare disorder that is often detected in very young children. The children tend to show symptoms like fatigue, nocturnal cough, and reduced cardiac output by the age of two years. They also develop wheezing due to the exudation of fluid into the lungs. [1]
There is a complex sequence of events that result in a well formed heart at birth and disruption of any portion may result in a defect. [32] The orderly timing of cell growth, cell migration, and programmed cell death (" apoptosis ") has been studied extensively and the genes that control the process are being elucidated. [ 27 ]
Multiple congenital anomalies-hypotonia-seizures syndrome is a rare multi-systemic genetic disorder which is characterized by developmental delay, seizures, hypotonia and heart, urinary, and gastrointestinal abnormalities.
[4] [12] It is the most common complex congenital heart defect, accounting for about 10 percent of cases. [ 13 ] [ 14 ] It was initially described in 1671 by Niels Steensen . [ 1 ] [ 15 ] A further description was published in 1888 by the French physician Étienne-Louis Arthur Fallot , after whom it is named.
It is less severe than total anomalous pulmonary venous connection which is a life-threatening anomaly requiring emergent surgical correction, usually diagnosed in the first few days of life. Partial anomalous venous connection may be diagnosed at any time from birth to old age.
Modern therapy is aimed at surgical reconstruction of the bladder and genitalia. Both males and females are born with this anomaly. Treatment is similar. In males treatments have been: In the modern staged repair of exstrophy (MSRE) the initial step is closure of the abdominal wall, often requiring a pelvic osteotomy.
There are three common anomalies predominately observed in 13q deletion syndrome: congenital heart disease, anorectal/genitourinary, and gastrointestinal tract malformations. These are all part of the VACTERL associations which is a disorder that is characterized by vertebral anomalies, anal atresia, cardiac defect, tracheoesphageal fistula ...
This anomaly is present in between 0.3% and 0.5% of the population and roughly 2.1% to 4.3% of those with congenital heart disease. [3] Usually babies who experience the persistence of a left superior vena cava display other heart anomalies as well. [ 13 ]