Diagnosis Search
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Misty Combs, DOB 6/29/94
Features and Characteristics:
- Hypotonic
- Spasticity and clonus in feet
- Non-verbal (speaks several words, but not consistently)
- Able to follow basic commands
- Slight strabismus (had eye surgery at 2 ½ years)
- Nystagmus
- Open mouth and frequent drooling
- Very social (likes to be the center of attention)
- Sleep disturbances
- Pronated ankles
- Wide gait with toes pointed out
- Balance problems
- Mouthing behaviors (hands in mouth, chewing on blankets)
- High pallet
- Large appetite
- Short stature (below the growth chart in height)
- Overweight (according to the growth chart in weight)
- Hyperactive reflexes
- Mild feeding problems (chokes occasionally on liquid and gags at certain textured foods)
- Delayed motor skills (sat at 18 months, crawled at 2 ½ years, walked at 3 years, 10 months)
Prenatal Concerns:
- Intrauterine growth retardation
- Little amniotic fluid left at birth
- Born via C-section and was breech
Testing with negative results:
- MRI
- CT-scan
- EEG
- Hearing tests
- Complete chromosome analysis
- FISH for Prader-Willi syndrome
- Fragile-X syndrome
- Amino and Organic Acid Deficiencies
- Carbohydrate deficient glycoprotein disorder
- Myotonic Dystrophy
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