July 4 2003

Signs & Symptoms
Prenatal Findings
- Not very active in womb
- Born 37 weeks gestation
Build / Stature
- Weight 6 lbs 12 oz, 18 inches long
- Short stature (not on chart)
- Microcephaly
- Ears developed well (per ABR and geneticist)
- Bilateral ptosis
- Epicanthal folds
- Eyes are fine (per ophthalmologist)
- Born with a lot of bleach blonde hair  (and still has all of it)
- Also born w/a lot of hair on body (still has some on forehead/ears)
- Fingernails small and thin
- Short neck (with extra skin on back of neck)
Upper Limb
- Curved pinkies
- Hands/feet small
Lower Limb
- Bilateral club feet
Alimentary Tract
- Problems with constipation
- GERD and associated feeding difficulties
Urinary Tract / Renal Function
- Left kidney-hydronephrosis due to grade V reflux
- Right kidney-small kidney due to cysts on upper 20%  (which has now turned to scar tissue)
- Undescended testes
Neuroligical Structural
- MRI-showed a proportionately small brain
Neuroligical Functional
- Low muscle tone
- Global developmental delays (learned to sit at 12 months, crawl at 15 months)
- Does not babble
Laboratory Test and Findings
- Numerous chromosome tests have come back normal
- Full skeletal X-ray-normal (with exception of curved pinkies and club feet)
- Thyroid Test-normal
- EEG did not detect any seizures or abnormal brain activity

Contact: Laura mom to Jacob at ludwig33@att.net

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