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 esthermbautista@verizon.net
Website: http://www.mysnugly.com

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