January 13 2001

Signs & Symptoms
Build / Stature

- Birth-6 pounds 4 oz 19” long

- Small for age (37 pounds 43inches at 8 years old)


- Microcephaly
- Flat occuiput (back of head)
- Frequent headaches

- Midface hypoplasia
- Cupped and protruding prominent ears w/ slightly thickened
- Small ear canals

- Conductive hearing loss (moderate in right ear--borderline normal in left ear)
 Car wax buildup

 Frequent ear infections (not as a baby, since he is older)
 Ears always bright red

- Downslanting palpebral fissures
- Long eyelashes
- Blue eyes--(Geneticist #1 "starburst" pattern) (Geneticist #2 "Brushfield spots of the irises")
- Strabismus
- Upturned nose w/ bulbous tip
- Nose dimple
- Slight mandibular prognathism (slight projection of the lower jaw)
- Narrow vermilion border
- Long philtrum
- Thin upper lip
- Cupid bow appearance to the mouth
- Eczema
- Rosy cheeks
- Low posterior hairline (born with head full of black hair)
- Widely spaced nipples
- Mild pectus excavatum
Respiratory System
- Asthma
- Recurrent respiratory Infections, croup 3 times in 1 year, pneumonia 5 times in 1 year
Alimentary Tract
- Gastro reflux till 15 months
- 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
- Low immune system (always sick w/ colds, upper respitpry infections, pneumonia, bronchitis)
Neurological Functional
- Sensory integration issues, tactile defensiveness
- Developmental delay (sat at 11 moths, crawled at 12 months, walked at 22 1/2 months)
- Speech/Language delay (
limited vocabulary-just started putting words together-everything sounds the same)
- Gross motor delays
- Fine motor delays
- Clumsy-poor coordination
- Poor suck/swallow as a baby, poor appetite
- L
ow muscle tone
- Severe gag reflex
- Very picky eater (only eats a few things-no meats, no veggies, no fruits, mostly pasta)

- Tactile defensiveness

- Very friendly, loving child (rathers adults than children)
  Short attention span
  Aggressive behavior
Destructive behavior
  Overly sensitive
 Obsessive behavior, liking exact routine
  Attention Seeking behaviors
  Increased and prolonged tantrums w/ some self injurious behaviors (headbutting, kicking, slapping, choking, clawing)

- SLEEP DISTURBANCE (hard time falling asleep and staying asleep) as a baby and young child
- Very colicky as a baby

- Muscle spasms as a baby

- Drools a lot

- Bruises easily

- Decreased sensitivity to pain

- FINALLY POTTY TRAINED (NOT TILL he was 7.9 years old)

- TIPTOE walking (waiting to see orthopedic doctor possible braces)

- Constipation and diarrhea
- This one is hard to explain-when concentrating on something, playing a game, watching tv, etc, his tongue hangs out of his mouth and he is constantly rolling it
Academic and Others
- Repeat 1st grader in a special education classroom w/ one-on-one support all day (just recently in the last month, moved to a new school district and this is the placement they have decided for him..previous school years was in an inclusion class ALL day w/ an aide)
 Doesn’t read or write ( can write his name only) ( can trace some letters)
  Grades –all F’s
 Short attention span, hyperactive, bad behaviors, and lack of communication makes school VERY DIFFICULT for him
-  His speech is very delayed, he can not talk in complete sentences, most of what he says is difficult for others to understand
  Receives Speech Therpy from the school 3x week, Occupation 1x month, PT consult only, APE 2x week, Music 1x week,
Laboratory Test and Findings
- Normal 46 XY karotype
- Downs syndromre -- normal
- 3 or 4 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
- Noonan Syndrome -- normal
- DiGeorge -- normal
- Subtelelomere FISH -- normal
- Genomic Microarray -- norma
- 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

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