WT: 2.454kg, Length: 45cm, Head Circumference: 33cm, T: 37C, P: 114, RR: 32 and regular, BP: 70/38, SaO2: Upper 90â€™s on room air.
General: Caucasian female, appeared growth retarded.
HEENT: A small right parietal cephalohematoma was noted at birth. Lower two central incisors present at birth.
Chest: Grade 3/6 systolic murmur noted at apex
Abdomen: Soft without organomegaly.
Genetalia: Normal female genitalia with a patent anus
Spine: Slight fullness in sacral region without a notable sacral dimple.
Musculoskeletal: Slight decrease in abduction of the right hip.
Otherwise, the physical exam was unremarkable.
Laboratory Data: (From day #1 of life)
CBC: Hgb 10.9, Hct 31, WBC 18,300; Plt 329,000.
BMP: Na 137, K 4.3, Cl 107, CO2 25, BUN 8, Cr 0.7, Glucose 87, Ca 7.4
Total bilirubin 3.4
PT 13.8, PTT 39.4
Blood for karyotype and high resolution chromosomes sent for analysis. Final chromosome analysis (FISH) revealed a deletion of 7q11.23 revealing a diagnosis of Williams Syndrome.
Pre-operative AFP: 105,898
Pre-operative BHCG: 2 (Normal <5)
Pre-op CEA: 1.6 (Normal <5.1)
Post-op AFP: 46,950