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Eddie Doon, DOB 2/10/92

Diagnosis Found: Eddie has been diagnosed with a deletion on the short arm of chromosome 1 (1p36.3 to be specific). Features and Characteristics: Hypertelorism (increased distance between the eyes) Down-slanting eyes Low set ears, rotated back and small Depressed nasal bridge Short nose Long philtrum High arched palate Multiple hair whorls Widely spaced nipples Absence of lower sacral segment Prominent finger pads Dimpled elbows Strabismus Astigmatism Absence of speech (good receptive language - use ASL for communication) Enlarged head Globally developmentally delayed Ambulatory (age 2) Testing with negative results: CT-scan, EEG and MRI Fragile X syndrome Coffin-Lowry Alpha-thalassemia (non-deletion) Mucopolysaccharidosis

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