Eric
Eric


July 30 1999

 
 
Signs & Symptoms
Prenatal Findings
- Two Vessel Umbilical Cord
 
Build / Stature
- Short Stature of unknown etiology
Head
- Craniosynostosis-Sagittal-surgery at 3 mos.,
- Left Coronal-surgery at 15 mos.
- Enlarged Anterior Fontanel
Ears
- Preauricular Pit-Left Ear-Low-set ears
-Thickened lobes
Eyes
- Ptosis-Left Eye-surgery x 2
- Hypertelorism Astigmatism-Left Eye
- Hyperopia Amblyopia
- Light Sensitivity
- Broad Nasal Bridge
- Upturned Nose Tip
- Anteverted Nares
Teeth
- Neonatal Tooth Fused
- Teeth Enamel Hypoplasia
Skin
- Slight Hirsute Sacral Dimple
Hair
- Widow's Peak
Vertabra
- Hypersegmented Lumbar Vertebrae
- Short,Broad Medial Clavicles
Abdominal
- Prominent button-like Umbilicus with Prominent depression surrounding umbilical "button"
Limb
- Small and Broad hand and feet Shawl Scrotum
Respitory System
- Reactive Airway Disease
Alimentary Tract
- Constipation
Genitalia
-Inguinal Hernia-Right  
Cardiac
- Ventricular Septal Defect(VSD)
Neurological Functional
- Cranial Nerve Dysfunction(Nerves III and V)
Laboratory Test and Findings
- Skull X-Ray-10/99,Craniosynostosis
- Skull CTs-11/99,7/00,2001,Craniosynostosis
- Echocardiogram-1999,2000,2003,VSD
- Renal U/S-1999,2000,2003,2 vessel cord and Asymmetrical Head
- Barium Enema Study-4/00,R/O Hirshsprungs-neg. but a redundant colon
- MRI,Brain-5/00-Developmental Delays,normal
- MRI,Lumbar Spine-6/00-R/O Tethered Cord-neg.
- Bone Age X-Ray-2/01-slightly delayed
- Skeletal Survey-3/03-abnormal shaped clavicles,mild bilateral acetabular dysplasia and mild coxa valga deformity bilaterally
- Hearing test-6/01,normal
Bloodwork:
- Karyotype-normal 46,XY
- TWIST gene-3/01,negative
- Southern Blot Analysis for the TWIST gene-3/01,negative FGFR3-3/01,negative
- FGFR2-3/01,negative
- FGFR1-3/01,negative
- Endocrine Workup-2/01,negative
- Sweat test-4/03,negative for CF
- Right now in research study for a possible dx of Aarskog Syndrome(mutation of the FGD1 gene) at Greenwood Genetics Center  

Contact: Martha mom to Eric at CranioNheartmom@aol.com
Website: http://www.geocities.com/mommy2eric2000/Eric_Cranio_Page.html
website:
www.geocities.com/mommy2eric2000/babyboyeric.html

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