TABLE 1

Anomalies Reported in PHACE Syndrome

CategoryAbnormality
Structural brainPosterior fossa
    Dandy-Walker complex
    Cerebellar hypoplasia/atrophy
    Subependymal and arachnoid cysts
Hypoplasia or agenesis of
    Cerebrum
    Corpus callosum
    Septum pellucidum
    Vermis
Polymicrogyria
Microcephaly
Heterotopia
Absent pituitary or partially empty sella turcica
CerebrovascularDysplasia of the large cerebral arteries
Absence or moderate to severe hypoplasia of the large cerebral arteries
Aberrant origin or course of the large cerebral arteries
Saccular aneurysms
Persistent embryonic arteries (predominantly trigeminal)
Pial enhancement
Cerebral sinus malformations
Sinus pericranii
Dural arteriovenous malformations/pial malformations
Intracranial hemangioma
Arterial stenosis or occlusion with or without moyamoya collaterals
Absent foramen lacerum
Acute arterial stroke
CardiovascularCoarctation or interrupted aortic arch (most often transverse section)
Aneurysms of aortic arch
Right aortic arch
Double aortic arch
Congenital valvular aortic stenosis
Aberrant origin of a subclavian with or without a vascular ring
Stenosis, occlusion, absence, or moderate to severe hypoplasia of the vertebral arteries
Subclavian steal syndrome
Anomalous coronary arteries
Patent ductus arteriosus
Anomalous pulmonary veins
Patent foramen ovale
Cor triatriatum
Tricuspid atresia/stenosis
Dextrocardia
Persistent left superior vena cava
Ventricular and atrial septal defects
Pulmonary stenosis
Tetralogy of Fallot
OcularRetinal vascular abnormalities
Persistent fetal vasculature
Iris vessel hypertrophy
“Morning-glory” disc
Peripapillary staphyloma
Optic nerve hypoplasia
Microphthalmia
Coloboma
Congenital cataracts
Sclerocornea
Iris hypoplasia
Exophthalmous
Congenital third nerve palsy
Horner syndrome
Ventral developmentalPartial or complete agenesis of sternum
Sternal cleft or pit
Sternal papule
Lingual ectopic thyroid
Supraumbilical raphe
Omphalocele
MiscellaneousPituitary insufficiency
Micrognathia
Auricular hypoplasia or agenesis/“low-set” ears
Orofacial clefting
Spinal dysraphism
Esophageal diverticulum
Cervical cyst
Ipsilateral sensorineural hearing loss