Build / Stature

- Height 75^th percentile; weight 10^th percentile; head circumference under 2^nd 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

Any troubles with e-mails send to amy76jo@yahoo.com