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The distinctive vascular abnormalities of the skin often fade over time, making the diagnosis challenging in older children with this condition. [citation needed] The brain can be affected in several ways in this syndrome. Some children are born with structural brain anomalies such as cortical dysplasia or polymicrogyria.
1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features.
Tetralogy of Fallot (TOF), formerly known as Steno-Fallot tetralogy, [9] is a congenital heart defect characterized by four specific cardiac defects. [4] Classically, the four defects are: [ 4 ] pulmonary stenosis , which is narrowing of the exit from the right ventricle;
Fetal abnormalities are conditions that affect a fetus or embryo, are able to be diagnosed prenatally, and may be fatal or cause disease after birth.They may include aneuploidies, structural abnormalities, or neoplasms.
Tetralogy of Fallot: pulmonary stenosis, ventricular septal defect, right ventricular hypertrophy, overriding aorta: Tetralogy of Fallot Ménière's disease: vertigo, tinnitus, fluctuating low frequency hearing loss, aural fullness: Ménière's disease zoonotic tetrad: scrub typhus, chiggers, rodents and birds, scrub vegetation
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.
The most typical form of APVS is a tetralogy of Fallot variant, [4] however, case studies have linked APVS to several different congenital cardiac syndromes, such as agenesis of ductus arteriosus, [5] persistent ductus arteriosus, [6] atrioventricular septal defect, [7] pulmonary branching abnormalities, [8] [9] transposition of the great arteries, [10] and type B interrupted aortic arch. [11]
Trilogy of Fallot is a combination of three congenital heart defects: pulmonary stenosis, right ventricular hypertrophy, and an atrial septal defect. [1]The first two of these are also found in the more common tetralogy of Fallot.