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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;
Van der Woude syndrome is inherited as an autosomal dominant disease caused by a mutation in a single gene with equal distribution between the sexes. The disease has high penetrance at about 96% but the phenotypic expression varies from lower lip pits with cleft lip and cleft palate to no visible abnormalities.
Cœur en sabot (French for "clog-shaped heart" or "boot-shaped heart" [1]) is a radiological sign seen most commonly in patients with tetralogy of Fallot, [2] a cyanotic congenital heart disease. It is a radiological term to describe the following findings in the x-ray: [ citation needed ]
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 Trilogy of Fallot also called Fallot's trilogy is a rare congenital heart disease consisting of the following defects: pulmonary valve stenosis, right ventricular hypertrophy and atrial septal defect. [1] It occurs in 1.2% of all congenital heart defects. [2]
Persistent fetal vasculature (PFV), also known as persistent fetal vasculature syndrome (PFVS), and until 1997 known primarily as persistent hyperplastic primary vitreous (PHPV), [1] is a rare congenital anomaly which occurs when blood vessels within the developing eye, known as the embryonic hyaloid vasculature network, fail to regress as they normally would in-utero after the eye is fully ...
A common cause of horizontal gaze palsies are strokes involving pontine structures, abducens nerve, or the motor cortex. [5] Horizontal gaze palsy has also been reported in cases of metastasis, [6] hemorrhage, [7] neuromyelitis optica spectrum disorder, [8] and multiple sclerosis.
In most cases, the gaze palsy can simply be seen by inability to move both eyes in one direction. However, sometimes a patient exhibits an abduction nystagmus in both eyes, indicating evidence of a conjugate gaze palsy. [12] A nystagmus is a back and forth "jerk" of the eye when attempting to hold a gaze in one direction. [13]