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Diagnosed on November 2005
"Smith-Magenis Syndrome"
http://www.prisms.org
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Growth
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- Normal
growth up to 6th months old (25th%)
- Growth dropped by 9 months, (height and
weight recovered to 10th%)
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Head
-
-
Microcephaly (under 2nd percentile)
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Ears
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- Hearing
difficulty resolved by ear tubes 9/02
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Eyes
-
- One eye
tracks behind the other
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Teeth
-
- Under bite
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Skin
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- Nevous
sebacious on scalp
- Some abnormal skin pigmentation on
torso
-
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Limb
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- Mild
hyperextendability and laxity of all
major joints
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Respitory
System
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- Chronic
upper respiratory infections prior to 2
years old
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- Possible
disrupted breathing while sleeping.
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Vascular
-
- Possible
poor circulation in legs, feet and hands
sometimes very cold and/or purple
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Hematological
System
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- Hemoglobin
E trait
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Neurological
Structural
-
- Possible
seizure as infant. (unconfirmed, to er as
choking incident. EEG found no signs of
abnormality)
-
- Occasional
tremors, usually in the morning
(uncontrollable shaking, unable to hold
things, sometimes unable to stand)
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Neurological
Functional
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- Global
developmental delays
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- Pervasive
mild hypotonia
- Speech & Fine Motor 15m,
Cognitive/Social 18m, Gross Motor 20m
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- Periods of
severe self-injury. Head banging, hand
and arm biting
-
- Possible
decreased pain sensitivity, does not
react consistently to pain.
- Interrupted sleep pattern, screams
herself to sleep, and wakes up often
-
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Personality
-
-
Hyperkinetic, constant activity
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- Very
social
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Misc.
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- Sticks
things in nose to point of injury
- Laughing causes hiccups
-
- Grinds
teeth & pops jaw
- Compulsively carries things. Not like a
'lovie', more like she doesn't like
having her hands empty.
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- Occasional
high fevers at night prior to 2 years old
-
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Laboratory
Test and Findings
-
Negative
test results:
- MRI
- EEG
- Lead screen
- Xrays
- Newborn metabolic screen (except for
Hemoglobin E)
- Thalassemia
- Eye exam
- Biotinidase deficiency
- Tuberous sclerosis
- Urine metabolic screen
- Serologic amino acid screen
- Glucose levels
- Normal Chromosome map and FISH for VCFS
& Smith-Magenis
- Ruled out: Rett Syndrome
Contact:
Charlene mom to Mirriam
charham@gmail.com
Mirriam's Page:
http://miri.tezhme.net/
Any
troubles with e-mails send to
swanusa@undiagnosed-usa.org
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