Lorna

July 8 1996

 
Signs & Symptoms
 
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
- Cross bite
- Late eruption 12months
 
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
- Gastro Esophageal reflux
Cardiac
- Atrail septal defect closed on its own at age 4
 
Vascular
- Raynauds Phenomenon
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
- 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