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Kagami-Ogata syndrome is a rare genetic disease that is caused by mutations on Maternal chromosome 14 or by paternal UPD(14). [1] The main signs of this disease are: polyhydramnios, narrow bell-shaped thorax, coat-hanger-like ribs, abdominal wall defect, enlarged placenta. [2]
Diabetic retinopathy (also known as diabetic eye disease) is a medical condition in which damage occurs to the retina due to diabetes.It is a leading cause of blindness in developed countries and one of the lead causes of sight loss in the world, even though there are many new therapies and improved treatments for helping people live with diabetes.
The most common cause found in adults is diabetic retinopathy. Abnormal blood vessels can form in the back of the eye of a person with diabetes. These new blood vessels are weaker and prone to breaking and causing hemorrhage. [2] Diabetic retinopathy accounts for 31.5–54% of all cases of vitreous hemorrhage in adults in the United States. [1]
Other measures (e.g. photocoagulation in patients with severe proliferative diabetic retinopathy). [ 16 ] Young people with extensive CSVD and few or no conventional vascular risk factors may benefit from genetic testing to identify any underlying genetic disorders that may be contributing to their condition (For Fabry disease , there is an ...
Frequently, retinopathy is an ocular manifestation of systemic disease as seen in diabetes or hypertension. [3] Diabetes is the most common cause of retinopathy in the U.S. as of 2008. [4] Diabetic retinopathy is the leading cause of blindness in working-aged people. [5]
Coxa valga is a deformity of the hip where the angle formed between the head and neck of the femur and its shaft is increased, usually above 135 degrees.. The deformity may develop in children with neuromuscular disorders (i.e. cerebral palsy, spinal dysraphism, poliomyelitis), skeletal dysplasias, and juvenile idiopathic arthritis.
Diabetic angiopathy is a form of angiopathy associated with diabetic complications. [1] While not exclusive, the two most common forms are diabetic retinopathy and diabetic nephropathy, whose pathophysiologies are largely identical. Other forms of diabetic angiopathy include diabetic neuropathy and diabetic cardiomyopathy. [2] [3]
Cotton wool spots are typically a sign of another disease state, most common of which is diabetic retinopathy. [2] The irregularly shaped white patches are a result of ischemia , or reduced blood flow and oxygen, in the retinal nerve fiber layer , which is located in the distribution of the capillaries of the superficial layer of the retina. [ 2 ]
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