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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.
A French study reports that this syndrome accounts for 1.9% of the population of strabismic patients, 53.5% of patients are female, is unilateral in 78% of cases, and the left eye (71.9%) is affected more frequently than the right. [15] Around 10–20% of cases are familial; these are more likely to be bilateral than non-familial Duane syndrome ...
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 ...
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 ]
Ocular ischemic syndrome is the constellation of ocular signs and symptoms secondary to severe, chronic arterial hypoperfusion to the eye. [1] Amaurosis fugax is a form of acute vision loss caused by reduced blood flow to the eye; it may be a warning sign of an impending stroke, as both stroke and retinal artery occlusion can be caused by thromboembolism due to atherosclerosis elsewhere in the ...
Hemianopsia, or hemianopia, is a visual field loss on the left or right side of the vertical midline. It can affect one eye but usually affects both eyes. Homonymous hemianopsia (or homonymous hemianopia) is hemianopic visual field loss on the same side of both eyes. Homonymous hemianopsia occurs because the right half of the brain has visual ...
Floating–Harbor syndrome, also known as Pelletier–Leisti syndrome, is a rare disease with fewer than 50 cases described in the literature. [1] It is usually diagnosed in early childhood and is characterized by the triad of proportionate short stature with delayed bone age , characteristic facial appearance, and delayed speech development.