| |
Signs & Symptoms
-
-
Birth
-
- 33 week, measured by ultrasound at 10
weeks for date of delivery
- In NICU for 23 days, apnea of
prematurity, trouble feeding (poor suck
and swallow reflex), jaundice umbilical
hernia camptadactaly (fine motor issues)
-
-
Build /
Stature
-
- Slow
weight gain (at 18ths was 20
lbs, 78 inches, 44cm head size)
-
Head
-
-
Microcephaly (normal at birth)
- Trigoncephaly
-
Ears
-
- Low set
ears
-
Eyes
-
- Optic Nerve Hypoplasia
-
- Nystagmus
-
- Strabismus
- Droopy eyelids
- Nose
- - Unusual Cyst in sinuses
- - Polyps
-
- Mouth
- - Weak mouth muscles (can't stick out her tongue)
-
-
Teeth
-
- Delayed
teeth development
-
-
Skin
-
- Eczema
-
Upper
Limb
-
- Long
tapering fingers
-
Lower
Limb
-
- Flat feet
-
Respitory
System
-
- Asthma
-
Alimentary
Tract
-
- Slow
Gastric Emptying
- Reflux
- Gastric ulcer
-
- Feeding
- - Failed 3 feeding clinic but started to eat at age 8
with Kennedy Krieger.
- - Stopped drinking bottle at age 9
-
-
Neurological
-
- Seizures
-
-
Neurological
Functional
-
- PDD NOS/Autism
- - Weakness in hands
- - Dystonia
- Sensory
issues
-
- Increased
tone in ankles, legs, forearms
- Speech delay (makes sounds, no
babbling)
- Developmental delay
- Poor tongue movement, horizontal smile
- Possible oral apraxia
- Motor delay
- Decreased ability to supinate arms
- Waves arms when excited
-
Laboratory
Test and Findings
-
- New testing normal
- -
Bone
survey normal
- CT and MRI at 8 months normal
- Urine organic acids normal
- Normal female karotypes
- Fragile x ---- normal
- FISH --- normal
- Swallow study ordered (cannot eat lumpy
food but will eat hard food that will
melt in mouth..will pocket food by gums
and teeth)
Contact: Jenny mom to Emily at
jenrooker@hotmail.com
Any
troubles with e-mails send to
swanusa@undiagnosed-usa.org
|
|
