Nathan was born full term (5 days late) weighing 8# even after an uneventful pregnancy and a pitocin labor induction and vaginal birth. We could tell right away that he was different. His head was oddly shaped and his eye brows and eye lashes were very hard to see. Nathan has wide set eyes and flat facial features. Ears appear to be a little low as well.  At his 1 week appointment it was thought that he had craniostenosis which was confirmed the next week. It was the right Coronal suture. We had surgery to correct that on his 8 week birthday.  The surgery was followed by helmet therapy for one year and it was claimed a success. The back of his head is still flat though and he is mircocephalic. Nathan also suffered from silent reflux (reflux without the vomiting) and 26 ear infections in his first 2 years of life. He has had 2 sets to tubes in his ears now and we discovered that a milk allergy was likely the cause of these infections. His hair is fine and straight. He has global developmental delays- walked at 17 mos, talked (more then 3 words) at 3 1/2 years and is currently behind his peers by about 2 years academically. His baby teeth are pretty small but his adult teeth seem to be average. He is missing at least one adult tooth. His mouth is small he and has a high arched pallette (sp?) and only eats peanut butter, chewy candy, fruit snacks and powdered sugar donuts. He has low muscle tone. He always has dark circles under his eyes and has astigmatism. Just before his third birthday, Nathan became epileptic and nearly died with his second seizure. He went into status epileptic twice and was hospitalized for that. The seizures originated in the temporal lobe and were grand mal seizures. Nathan is shorter than the average 8 year old but weighs a little more than the average 8 year old. His feet are small and thick and he tends to walk on his toes. His hands are small-ish and his fingers are short.
Nathan has has a chromosomal analysis that was deemed normal several years ago. He has been diagnosed with ASD and OCD. We just had 1100 cells tested for Mosaic Down's Syndrome with a negative result via a blood sample but we are considering doing a Buchal Swab to check the skin cells.

 

 

Build / Stature

-Smaller than average

Head

-Craniostenosis (Coronal Suture)

-Microcephaly

Face

-Flat

Ears

-Low-set ears

-26 ear infection in the first 2 year.

Eyes

-Wide set eyes

-dark circles under his eyes

-astigmatism

 

Mouth

-High arched palate

-Small Mouth

Teeth

-Missing one adult tooth

Hair

-Fine and Straight Hair

 

Upper Limb

-Short Fingers

Alimentary Tract

-Refux

Neurological Functional

-Global Developmental Delay

-low muscle tone

-Seizures

-Autism Spectrum Disorder

-Obsessive Compulsive Disorder

Laboratory Test and Findings

-1100 cells tested for Mosaic Down's Syndrome with a negative

Contact: Diana mom to Nathan at picturelady93@hotmail.com

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