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Human chromosome 1. The breakpoints for 1p36 deletion syndrome have been variable and are most commonly found from 1p36.13 to 1p36.33. 40 percent of all breakpoints occur 3 to 5 million base pairs from the telomere. The size of the deletion ranges from approximately 1.5 million base pairs to greater than 10 million. [9]
Toxoplasma chorioretinitis, more simply known as ocular toxoplasmosis, is possibly the most common cause of infections in the back of the eye (posterior segment) worldwide. The causitive agent is Toxoplasma gondii, and in the United States, most cases are acquired congenitally. The most common symptom is decreased visual acuity in one eye.
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]
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]
Symptoms of endophthalmitis include severe eye pain, vision loss, and intense redness of the conjunctiva. [1] Bacterial endophthalmitis more commonly presents with severe and sudden symptoms whereas fungal causes have a more insidious onset and severity, with 80% of ocular candidiasis (both chorioretinitis and endophthalmitis) being asymptomatic. [3]
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.
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 ...
In healthcare, a differential diagnosis (DDx) is a method of analysis that distinguishes a particular disease or condition from others that present with similar clinical features. [1] Differential diagnostic procedures are used by clinicians to diagnose the specific disease in a patient , or, at least, to consider any imminently life ...