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TABLE 3

Consensus Diagnostic Criteria for PHACE Syndrome

Organ SystemMajor CriteriaMinor Criteria
Cerebrovascular Anomaly of major cerebral arteriesDysplasiaa of the large cerebral arteriesbArterial stenosis or occlusion with or without moyamoya collaterals Persistent embryonic artery other than trigeminal arteryProatlantal intersegmental artery (types 1 and 2)Primitive hypoglossal arteryPrimitive otic artery 
 Absence or moderate-severe hypoplasia of the large cerebral arteries  
 Aberrant origin or course of the large cerebral arteriesb  
 Persistent trigeminal artery  
 Saccular aneurysms of any cerebral arteries  
Structural brain Posterior fossa anomalyDandy-Walker complex or unilateral/bilateral cerebellar hypoplasia/dysplasia Enhancing extraaxial lesion with features consistent with intracranial hemangiomaMidline anomalyc 
Neuronal migration disorderd 
Cardiovascular Aortic arch anomaly Ventricular septal defect 
 Coarctation of aorta Right aortic arch (double aortic arch) 
 Dysplasiaa  
 Aneurysm  
Aberrant origin of the subclavian artery with or without a vascular ring  
Ocular Posterior segment abnormality Anterior segment abnormality 
 Persistent hyperplastic primary vitreous  MicrophthalmiaSclerocornea 
 Persistent fetal vasculature  Coloboma 
 Retinal vascular anomalies  Cataracts 
 Morning glory disc anomaly  
 Optic nerve hypoplasia Coloboma  
 Peripapillary staphyloma  
Ventral or midline Sternal defect Hypopituitarism 
 Sternal cleft Ectopic thyroid 
 Supraumbilical raphe  
 Sternal defects  
Organ SystemMajor CriteriaMinor Criteria
Cerebrovascular Anomaly of major cerebral arteriesDysplasiaa of the large cerebral arteriesbArterial stenosis or occlusion with or without moyamoya collaterals Persistent embryonic artery other than trigeminal arteryProatlantal intersegmental artery (types 1 and 2)Primitive hypoglossal arteryPrimitive otic artery 
 Absence or moderate-severe hypoplasia of the large cerebral arteries  
 Aberrant origin or course of the large cerebral arteriesb  
 Persistent trigeminal artery  
 Saccular aneurysms of any cerebral arteries  
Structural brain Posterior fossa anomalyDandy-Walker complex or unilateral/bilateral cerebellar hypoplasia/dysplasia Enhancing extraaxial lesion with features consistent with intracranial hemangiomaMidline anomalyc 
Neuronal migration disorderd 
Cardiovascular Aortic arch anomaly Ventricular septal defect 
 Coarctation of aorta Right aortic arch (double aortic arch) 
 Dysplasiaa  
 Aneurysm  
Aberrant origin of the subclavian artery with or without a vascular ring  
Ocular Posterior segment abnormality Anterior segment abnormality 
 Persistent hyperplastic primary vitreous  MicrophthalmiaSclerocornea 
 Persistent fetal vasculature  Coloboma 
 Retinal vascular anomalies  Cataracts 
 Morning glory disc anomaly  
 Optic nerve hypoplasia Coloboma  
 Peripapillary staphyloma  
Ventral or midline Sternal defect Hypopituitarism 
 Sternal cleft Ectopic thyroid 
 Supraumbilical raphe  
 Sternal defects  

Adapted from ref 25.

a

Includes kinking, looping, tortuosity, and/or dolichoectasia.

b

Internal carotid artery, middle cerebral artery, anterior cerebral artery, posterior cerebral artery, or vertebrobasilar system

c

Callosal agenesis or dysgenesis, septum pellucidum agenesis, pituitary malformation, or pituitary ectopia.

d

Polymicrogyria, cortical dysplasia, or gray matter heterotopia.

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