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Molly Dunne, DOB 9/26/95
Features and Characteristics:
- Global developmental delay
- Early hypotonia
- Partial agenesis of the corpus callosum (posterior part missing)
- Hypoplastic midface with resultant underbite
- Slightly tapered fingers
- Large tongue
- Significant fine and gross motor delay but was walking by 26 months with braces; now doesn't require braces but has a rather ataxic gait
- Can feed self and drink from a cup
- Significant speech delay but at 4 years can speak about 60 words (may not all be intelligible by all people!)
- Far-sighted with exotropia
- Large frame (at four years is 50 pounds and 44 inches)
- Has always had a fascination (perseveration) with pouring sand or water or pebbles, etc., onto hands or head
- Starting to exhibit a lot of hand flapping
- Generally has been loving and affable but starting to demonstrate a lot of destructive behavior of late (Terrible Twos?)
Testing with negative results:
- Negative screen for metabolic disorders (serum and urine amino acids, etc.)
- Normal karyotype
- FISH for Smith-Magenis syndrome
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