Charlie

June 8 1997

 
 

Diagnosed on September 24 2003
"Velocardio Facial Syndrome"
Clinically diagnosed with normal chromosome test results.
http://www.vcfsef.org/
Symptoms of the above diagnosis

Features & Characteristics

Head
- Macrocephaly
Face
- Micrognathia
Eyes
- Severe hypemetropia
- Blue scelerae
- Mild hypertelorism at birth but eyes look normal now
Mouth
- High arched palate with suspected sub-mucous cleft
Hair
- hair very fine
Abdominal
- Pectus excavatum
 
Limb
- Joint laxity
Lower Limb
- Downs syndrome toes! ..massive gap between big toe and next
- Hips very narrow, rather short thigh bones
- Flat feet with pronation..wears AFO's/ orthopedic boots
 
Skeletal
- Back abnormally long
Neuroligical Functional
- Some autistic type difficulties
- Muscle weakness tires very quickly
- Hypotonia
- Global developmental delay

- Speech delay severe articulation difficulties
- Siezures ..but no one has quite decided what type
- Hypernasal voice
Muscle
- Muscle loss and scapula winging..skinny prominent upper body

Contact: Julie mom to Charlie at julie@radford95.freeserve.co.uk
Website:
http://homepage.ntlworld.com/julieradford

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