Eric

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

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

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