Build / Stature

- small for age (22 pounds at 29 months)

Head

- microcephaly

- flat occuiput (back of head)

Face

- midface hypoplasia

Ears

- cupped and protruding prominent ears w/ slightly thickened
helices
- small ear canals

-moderate to severe hearing loss in right ear--borderline normal in left ear

Eyes

- downslanting palpebral fissures

- long eyelashes

- blue eyes--(Geneticist #1 "starburst" pattern) (Geneticist #2 "Brushfield spots of the irises")

 

Nose

- upturned nose w/ bulbous tip
- nose dimple

 

Mouth

- slight mandibular prognathism (slight projection of the lower jaw)

- narrow vermilion border
- long philtrum
- thin upper lip
- cupid bow apperance to the mouth
- (?) palate in mouth low (mom notices--does not kow if means anything)

 

Skin

- ecxema, rosy cheeks

Hair

- low posterior hairline (born with head full of black hair)

 

Chest

- widely spaced nipples
- mild pectus evactum

Upper Limb

- uplifted arms during running

Lower Limb

- feet turn outward

Respitory System

-ashtma

-recurrent Respitory Infections, croup 3 times in 1 year, pneumonia 5 times in 1 year

Alimentary Tract

-gastro reflux till 15 months

Cardiac

-heart murmur
-Atrial septic defect (closed on its own)
-PDA (patent ductus arteriosus) (needs surgery--put off till older)

Immune System

-allergies (like father)
-Peanut Allergy

Neurological Functional

-hyperactive
-short attention span

-sensory intergration issues, tactile defensiveness

Development

-Developmental dealy (sat at 11 moths, crawled at 12 months, walked at 22 1/2 months)
-Speech delay (better receptive then expressive vocabulary)

 

Feeding

-poor suck/swallow as a baby, poor appetite
-just started eating some solids

 

Personality

-loves music, water, lights, anything that spins

Misc

-hirsuitism

-SLEEP DISTURBANCE (hard time falling asleep and staying asleep)

-muscle spasms as a baby
-sometimes jumps in sleep

-increased tantrums w/ some self injurous behavior (headbanging, kicking, slapping, clawing)

-drools

Laboratory Test and Findings

-normal 46 XY karotype
-downs syndromre -- normal
-2 Williams Syndrome -- FISH -- normal
(clincially diagnosed w/ WS at 8 months, then said at 18 months not "typical" WS child)(?)
-Smith Magenis -- normal
-Angelman Syndrome -- normal
-DiGeorge -- normal
-Subtelelomere FISH -- normal
-abnormal EEG -- (shifting, asynchronous bi-central low voltage spike and wave activity w/ phase reversals at CZ, C3, and C4-
-also potential epilptogenic focus in the central head region)
-abdominal ultrasound -- normal
-cat scan of the brain -- normal
-MRI -- normal
-TSH thyroid -- normal
-T4 thyroid -- somewhat low-

Contact: Niki mom to Peyton at niki_lee_bennett@yahoo.com

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