Build / Stature

- Short Stature

- Below the 5%

- Low birth weight at full term (4lbs 13oz)

Head

- Microcephaly (42cm)

- Plagiocephaly

Face

- Facial asymmetry

- Poorly formed philtrum

Ears

- Lowset ears

- Left ear is hypoplastic with over folded pinnae

- Right ear is cupped shaped with over folded pinnae

 

Eyes

- Ptosis on left eye

- Anisometropia

- Right congenital superior oblique palsy (strabismus)

 

Nose

- Large Nasal Polyp removed on 1/29/08

- Alae nasi is hypoplastic

- Prominent nasal bridge

 

Mouth

- Thin upper lip

Teeth

- Multiple impacted teeth

- Cross bite

- Late eruption 12months

 

Nails

- Terry's Nails

 

Chest

- Nipples hypoplastic and laterally displaced, in early childhood

- Pectus excavatum

Abdominal

- Umbilical hernia

Upper Limb

- Mild 5 finger clinodactyly

- Long tapering fingers

- Bridge crease on right

Skeletal

- Over Pronation of Ankles (new finding 2008)

- Delayed bone age of more than 3 years

- Scoliosis, slight

- Abnormal skull shape

Skin

- Multiple warts on face, hands and feet for a period of 4 years

Alimentary Tract

- Chronic

- Gastro Esophageal reflux

Cardiac

- Atrail septal defect closed on its own at age 4

 

Vascular

- Raynauds Phenomenon or Acrocynosis

Muscle

- Contractures

 

Hematological System

- Immune Thrombocytopenic Purpura (low platelets) for 6 months

Neurological Structural

- Small Brain

 

Neurological Functional

- Dysarthia, Apraxia

- Mild to Moderate Delayed in all areas

Laboratory Test and Findings

- Townes Brocks Syndrome SALL1 gene (pending)

- CHARGE Syndrome CHD7 gene (pending)

- Treacher Collins Syndrome TCOF1 gene (pending)

- Goldberg-Shprintzen Syndrome KIAA1279 gene (pending)

- SNP Array (pending)

- Comparative Genome Hybridization (Feb 2005, Normal)

- 22q11 (FISH) (Normal)
- Chromosome analysis (Normal)
- Subtelomeric FISH probe study (Normal)
- Skin biopsy fibroblast (Normal)
- Fanconi Anemia (Normal)
- MRI - small brain

Contact: Amy mom to Lorna at amy76jo@yahoo.com
Family Website: www.geocities.com/amy76jo
Lorna's Page: www.geocities.com/amy76jo/lornas_page.htm

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