| Signs & Symptoms
- Low birth weight,
5lb 8oz
- Cutis
aplasia congenita (open hole in back
of head, which healed after 6 weeks and is now a
round scar with no hair)
- Swallowing problems, better after tonsils
removed at 2
- Very sleepy baby, had to wake for feeds lazy
suck
- Sleep apnea, better after tonsils removed
- Hypotonia
- Epicanthal folds
- Global delays
- Poor language skills (but understands
everything)
- Big gap between first and second toes
- Flat feet
- Protruding heels
- Knock kneed
- Short attention span
- Dimples in shoulder blades and elbows
- Flat nasal bridge
- Low set ears
- Drooling, better with age
- Asthma
- Eczema
- Poor teeth (cavities)
- Long tapered fingers
- Recurrent ear infections, better after grommets
at 2
- Constant hair chewing
- Widely spaced nipples
- Hyperextensible
joints
- Fine motor skills ok
- Sat up alone at 7/8 months
- Crawled at 10 months
- Cruised around the furniture from 12 months and
finally walked solo at 19 months, and there's no
stopping her now
Tests:
-
She has had chromosomes 5, 13,15,18 and 21 tested
all with negative results
- Head ultrasounds, all ok
- Metabolic screening was ok
Contact:
Nicole mom to Madison at
nicndaz@bigpond.net.au
Any
troubles with e-mails send to
amy76jo@yahoo.com
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