Build / Stature

- Low birth weight at full term - 4lbs, 5 ounces
- Continues to be very small - 10lbs at 6 months old

Head

- Misshapen skull
- Microcephaly (though head size is in proportion to body size)

Face

- Small, somewhat recessed chin

Ears

- Low set ears

Eyes

- Clogged tear ducts
- Flattened supraorbital ridges (flat browbone)
- Downslanting palpebral fissures (downslanting eyes)

Nose

- Small, upturned nose

Mouth

- Small mouth
- Long, smooth philtrum

Hair

- Abundant scalp hair, but very light and very sparse eyebrows and eyelashes
- Three hair whorls

Nail

- Hypoplastic toenails

Neck

- Short neck

Pelvis

- Narrow pelvis

Abdominal

- Hypoplastic nipples (very small and faint)

Upper Limb

- Tapered fingers
- Clinodactyl of 4th and 5th fingers on both hands

Lower Limb

- Very small feet

- Hip dislocation/hip dysplasia
- Bilateral clubfoot (now corrected)

Urinary Tract / Renal Function

- Multicystic dysplastic right kidney
- Kidney reflux  - left kidney

Cardiac

- Atrial septal defect (ASD)
- Ventricular septal defect (VSD)

Misc

- Despite all of her problems, she eats well, sleeps well, and is a happy baby.  She has met all of her developmental milestones so far.
- Everything on her right side is more severely affected...her hip is worse, her right clubfoot is worse, her right kidney is worse than the left

Contact: Janelle mom to Avery janelle529@hotmail.com

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