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MADALING FLORES

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Madaline Flores

on 3 November 2015

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Transcript of MADALING FLORES

MADALING FLORES
CAT EYE SYNDROME
What is Cateye Syndrome ?
Signs & Symptoms
Many people with cat eye syndrome have eye abnormalities, such as absence of some ocular tissue from one or both eyes . The coloboma may involve the colored region , the middle layer , or the nerve-rich innermost membrane of the eye. Iris coloboma may give the iris an unusual “keyhole” appearance. Although coloboma was originally considered a primary feature of the disorder, this abnormality is not present in all individuals with cat eye syndrome. aIn many cases, affected individuals have additional eye abnormalities, such s downwardly slanting eyelid folds vertical skin folds that may cover the inner corners of the eyes widely spaced eyes, crossing of the eyes or abnormal smallness of one of the eyes . Less frequently, other ocular defects may be present. These may include absence of the iris ; clouding of the dome-shaped, normally transparent region of the front of the eyeball absence of tissue from portions of the eyelid ; loss of transparency of the lens of the eye or Duane syndrome. The latter is a condition characterized by limitation or absence of certain horizontal eye movements and retraction or “drawing back” of the eyeball into the eye cavity upon attempting to look inward.


Diagnosis
some cases, it is possible that a diagnosis of cat eye syndrome may be suspected before birth based upon specialized tests, such as ultrasound, amniocentesis, or choronic villus sampling . During fetal effect, reflected sound waves create an image of the developing fetus, potentially revealing certain findings that suggest a chromosomal disorder or other developmental abnormalities. During amniocentesis, a sample of fluid that surrounds the developing fetus is removed and analyzed, while CVS involves the removal of tissue samples from a portion of the placenta. Chromosomal studies performed on such fluid or tissue samples may reveal tetrasomy or trisomy of a portion of chromosome.

Treatment
The treatment of cat eye syndrome may require the coordinated efforts of a team of medical professionals, such as pediatricians; surgeons; heart specialists physicians who specialize in diagnosing and treating abnormalities of the digestive tract; eye specialists; health professionals who detect, evaluate, and help to manage hearing problems; physicians who diagnose and treat disorders of the skeleton, muscles, joints, and related tissues and/or other health care professionals.
Cat eye syndrome is a rare chromosomal syndrome that may be noticeable at birth. pepole with a normal chromosomal make-up have two 22 chromosomes, both of which have been, known as 22, and a long arm, called 22. However, in individuals with cat eye syndrome, the short arm and a small region of the long arm of chromosome 22 are present three or four times rather than twice in cells of the body.
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