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Developmental
history:
Normal pregnancy. Born at 36 weeks weighing
5 lbs. 3 oz. Couldn't breast feed, had reflux as
baby, could not feed self food or bottle until 18
months. Remained at 5th percentile until 12
months, then dropped off the charts. Sat up
at 11 months, never crawled (butt-scooted),
walked at 24 months, didn't use meaningful words
until age 3, However, eye contact,
smiling, babbling, and other social skills were
on target. Exhibits near-photographic
memory. Cognition remains below age level.
Other
Physical Traits:
short stature, microcephaly, prominent ears,
prominent nose, deeply set eyes, prominent
cowlick (although father has these four traits
also)
arms slightly shorter than average, short
fingers, fetal finger pads, VSD (partially
closed), blue eyes with slight epincanthal folds,
arched palate, fine body hair on back and cheeks,
hypertonic muscle tone.
Behavioral
traits:
OCD characteristics, ADHD, repetitive
vocalizations, high anxiety, has tantrums easily,
spits and/or pokes at people when anxious, flaps
hands and toe walks when excited, fascinated with
water, balls, spinning objects, patterns on
shirts, very messy eater (taps utensils
compulsively on table), very impulsive,
mischievous, difficulty sleeping and always wakes
at night, very poor fine-motor skills (can only
scribble with crayon), can be very loving and
enjoys cuddling.
The
following test were all normal:
chromosomal analysis, FISH test, CK level,
lactate and pyruvate level, and amino acid
level.
He
has been tested for and/or ruled-out of the
following conditions:
Angelmans Syndrome
Fragile X Syndrome
FG Syndrome
Floating Harbor Syndrome
Williams Syndrome
Velo-Cardio-Facial Syndrome
Contact: Kathy mom
to Jesse at dinercar@rcn.com
Any
troubles with e-mails send to
swanusa@undiagnosed-usa.org
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