Prenatal Findings

- Not very active in womb

 

Birth

- Born 37 weeks gestation

Build / Stature

- Weight 6 lbs 12 oz, 18 inches long

- Short stature (not on chart)

Head

- Microcephaly

Ears

- Ears developed well (per ABR and geneticist)

Eyes

- Bilateral ptosis
- Epicanthal folds
- Eyes are fine (per ophthalmologist)

Hair

- 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)

 

Nail

- Fingernails small and thin

Neck

- 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)

Genitalia

- Undescended testes

Neuroligical Structural

- MRI-showed a proportionately small brain

Neuroligical Functional

- Low muscle tone

 

Development

- 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

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