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Shone's complex, Shone's anomaly, or Shone's disease: Specialty: Cardiology: Shone's syndrome is a rare congenital heart defect described by Shone in 1963 ...
With appropriate treatment, outcomes are generally good, even with complex problems. ... Shone's syndrome/ Shone's complex / Shone's anomaly; Treatment. CHD may ...
[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.
The VACTERL association (also VATER association, and less accurately VACTERL syndrome) refers to a recognized group of birth defects which tend to co-occur (see below).This pattern is a recognized association, as opposed to a syndrome, because there is no known pathogenetic cause to explain the grouped incidence.
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental disability, intellectual disability and cleft palate. [7]
Limb body wall complex (LBWC) is a rare and severe syndrome of congenital malformations involving craniofacial and abdominal anomalies. LBWC emerges during early fetal development and is fatal. The cause of LBWC is unknown.
Turner syndrome (TS), commonly known as 45,X, or 45,X0, [note 1] is a chromosomal disorder in which cells have only one X chromosome or are partially missing an X chromosome (sex chromosome monosomy) leading to the complete or partial deletion of the pseudoautosomal regions (PAR1, PAR2) in the affected X chromosome.