Bethany

June 28 2003

 
 
Signs & Symptoms

Build / Stature

-Short Stature
-Average weight
 
Head
-Small head size
Ears
-Has ear pit above right ear  
Eyes
-Wide set eyes
-Has strabismus, wear glasses (near-sighted )
 
Skin
-Has Café-spots on back, stomach, and face
 
Limb
-Thumbs attached lower than “normal” (Simian-like)
-Simian crease on Left palm
-Small hands and feet
Alimentary Tract
-Had mal-rotated stomach corrected with surgery 2 wks after birth
 
Endocrine
-Small pituitary gland
 
Neurological Functional
-Seizures age 3 years, currently no meds & no seizures
-Hypotonia
Development
-Global developmental delays
-Oral sensitivity (gags on textured foods)
-Tongue protrusion
-Drooling
-Hand use is improving
-Doesn’t say any words (Babbles)
-Rolls to change positions and move around
-Sits up unassisted  
-Crawls & Bunny hops
-Walks with assistance / Walkier
Personality
-Stems on hands & textures with hands and tongue
-Laughs randomly
-High tolerance for pain
-Loves music
-Loves liquids
-Generally very happy and quiet child. Sucks fingers (Use to chew on hand) Very easy
 
Laboratory Test and Findings
All Negative
-MRI / CAT
-Basic metabolic disorders (blood and urine)
-Chromosomal analysis
-FISH test for Angelman, Prader-Willi and Williams syndromes
-Pending Micro-array results
 

Contact: Esther mom to Bethany ladyesther36@yahoo.com  
Website:
http://www.mysnugly.com

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