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Amy Tarasenko, DOB 8/26/96

Features and Characteristics: Seizures (many different types including myoclonic, grand mal, and febrile convulsions) Small toes with clindactyly 5th finger clindactyly High nasal bridge Prominent upper lip Slightly small ears Narrow forehead Deep-set eyes Prominent nose Mild eczema Cold hands and feet Mild optic atrophy IgA deficiency Ataxic, jerky gait Self stimulation (such as mouthing, hand flapping, chewing hands and fingers, teeth grinding) No speech and no use of signs, however, is able to use a communication board Tight muscles and tendons in legs Lack of social interaction with other children Short attention span Global developmental delay (sat at 10 months, crawled at 16 months, walked at 26 months) Fascination with water (drinking, bathing, playing at sink or play pool) High proline level (amino acid) Birth symptoms include hypothermia, hypoglycaemia, and restricted muscle use Testing with negative results: Angelman syndrome (FISH and Methylation studies) Rett syndrome Metabolic disorders (blood, urine and cerebral fluid) CT-scan Head ultrasound TORCH screen

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