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PHACE criteria (columns to the right) case (row below) | Hemangioma | Arterial anomalies | Structural brain | Cardiovascular | Ocular | Ventral midline | Other features, notably dental anomalies (not described in PHACE criteria) |
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Previously reported “case 4” in Ragge et al. [4] | (i) Left temporal hemangioma (size not specified) | Absent | Absent | (i) Large ASD | (i) Bilateral posterior embryotoxon | Absent | (i) Large earlobes (ii) Long fingers with 4th and 5th camptodactyly (iii) Short and deep-set toenails (iv) Developmental delay (intellectual disability, speech, and motor delays) |
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Previously reported “case 8” in Ragge et al. [4] | (i) Large forehead hemangioma (size not specified) (ii) Large neck hemangioma | Absent | Absent | (i) Left ventricular noncompaction (ii) Small persistent ductus arteriosus | (i) Bilateral congenital cataracts (ii) Mild microphthalmia | Absent | (i) Thyroglossal cyst (ii) Agenesis of both superius lateral incisors (iii) Cutaneous syndactyly of second and third toes |
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Currently reported case 1 | (i) Involuted hemangioma of the forehead | Unknown | Unknown | (i) VSD | (i) Bilateral congenital cataracts (ii) CHRPE (iii) Glaucoma | Absent | (i) Dental anomalies (persistent baby teeth, fused baby teeth, delayed eruption of secondary teeth, and long roots of her teeth) (ii) Flat feet (iii) High-arched palate (iv) Facial features that do not resemble other family members (v) Clinodactyly |
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Currently reported case 2 | (i) Right parietal scalp estimated as 5 × 6 cm on physical exam but measuring as 3.9 × 2.3 cm axially by MRI (ii) Smaller lesion within the right frontal scalp measured approximately 1.2 cm in diameter by MRI | (i) Aberrant right subclavian artery | Absent | (i) ASD | (i) Bilateral congenital cataracts (ii) Glaucoma-Microphthalmos left eye | Absent | (i) Long roots of her teeth with one missing tooth and first primary tooth loss at 6-7 years of age (ii) Wolff-Parkinson-White (WPW) syndrome |
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