Alex

July 16 1998

 
 
Signs & Symptoms
 
Build / Stature
- Height 75th percentile; weight 10th percentile; head circumference under 2nd percentile
Head
- Mild microcephaly
- Mild brachychephaly
- Premature closure fontanels
Face
- Soft features
Ears
- Small ears
- History of ear infections – tubes inserted
Eyes
- Slight hypertelorism
 
Mouth
- Thin vermilion border
- Down turned mouth
Hair
- Born with lots of hair, which didn’t fall out.
Lower Limb
- Long very narrow feet
Alimentary Tract
- Eating problems
– difficulty swallowing, tends to pouch food in cheeks
- History of gastroesophageal reflux
Genitalia
- Small genitalia
Neuroligical Functional
- No speech although some representational noises
- Oral dyspraxia
- Sensory integration issues
- Slow to achieve milestones i.e. head control, sitting, crawling, walking
- Global developmental delay (approx. 50% behind, more in speech)
- Hypotonic
- Some autistic features, poor eye contact – , needs routine.
Personality
- Very easy going personality, does not cry often, decreased sense of pain, excellent sleeper.
Misc
- Yellow tone to skin when a baby (especially around the nose and neck)
- Normal birth/delivery with no problems observed by doctors
Laboratory Test and Findings
- MRI scan – normal
- Chromosome analysis – normal
- Subtelomeric FISH analysis – normal
- Tests for Angelmans syndrome and Fragile X – normal

Contact: Gillie mom to Alex at gillie@gillie.co.uk

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