Katy

Nov. 19 2003
 

 
 
Signs & Symptoms
Build / Stature
-Low Birth Weight 4lbs 9oz, 17 in
-proportionate small stature, 23 lbs, 32 inches tall at 4 1/2 years old
Head
-Microcephaly
Face
-Pierre Robin anomaly (cleft palate, small lower jaw, small airway)
Ears
-Low-set ears
-Rotated toward the back
Eyes
-Eye brows are arched and meet in the middle
-Blocked tear ducts
 
Nose
-Upturned nose
 
Mouth
 
-Thin down turned lips
Hair
-Thick hair
-Hair extends onto the forehead slightly and onto the shoulders and back as well as on the legs
Upper Limb
-Short proximally placed thumb (lower toward wrist
-Small curved pinky
-Small hands and feet (wore a size 0 shoe until she was over a year old)
Skeletal
-Scoliosis
Alimentary Tract
-Gastro Esophageal Reflux Disease (GERD)
Cardiac
-VSD and ASD- mild, no surgery required
 
Immune System
-Frequent illnesses
Neurological Structural
-Level IV bleed in the brain in postnatal period
-Mild underdevelopment of frontal lobes of brain
 
Neurological Functional
-Sensory integration dysfunction
-Possible seizures
-Moderate to severe developmental delay (MR), about the development of a 15 month old baby at 4 1/2 years
Feeding
-Failure To Thrive
-Oral aversion
-G-tube fed
-Multiple food intolerances
Muscle
-Low muscle tone (braces on ankles because they collapse)
Laboratory Test and Findings
-
 

Contact: Jennifer mom to Katy at seanandkaty@yahoo.com
Family's Blogspot: http://busiestmommyinamerica.blogspot.com

Any troubles with e-mails send to swanusa@undiagnosed-usa.org