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PHACES Syndrome and Associated Anomalies: Risk Associated With Small and Large Facial Hemangiomas
Maia Proisy1, Julie Powell2, Catherine McCuaig2
1Centre Hospitalier Universitaire de Rennes, Rennes, France.
Insights
PHACES syndrome, a condition involving multiple anomalies, can occur in infants with facial infantile hemangiomas of any size. Early clinical concern for extracutaneous anomalies is crucial for all affected infants.
Area of Science:
- Pediatric Radiology
- Vascular Anomalies
- Genetics and Rare Diseases
Background:
- PHACES syndrome is a complex condition characterized by posterior fossa malformations, hemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities, and sternal defects.
- Current practice often delays brain imaging for infantile hemangiomas until they exceed 5 cm, leading to sparse data on associated anomalies in smaller lesions.
- The correlation between hemangioma size, location, and associated anomalies remains incompletely understood.
Purpose of the Study:
- To determine the prevalence of PHACES-like anomalies in infants with segmental facial or periorbital infantile hemangiomas of all sizes.
- To investigate the relationship between the cutaneous localization of infantile hemangiomas and the presence of associated anomalies.
Main Methods:
- Retrospective review of medical records, clinical photographs, and brain MRI scans from 122 infants diagnosed with segmental facial or periorbital focal infantile hemangioma.
- Clinical photographs were analyzed for hemangioma segment and lateralization.
- MRI scans were evaluated by two pediatric radiologists for brain anomalies, cardiovascular anomalies, sternal defects, and eye anomalies, using established PHACES criteria.
Main Results:
- 18.0% of the 122 infants (mean age 16.6 months) were diagnosed with PHACES or possible PHACES syndrome.
- Cerebrovascular and brain anomalies were significantly more prevalent in patients with PHACES syndrome (p < .001).
- Cardiovascular anomalies were present in six patients and ocular anomalies in eight, with most cases associated with PHACES syndrome.
Conclusions:
- Clinical evaluation for extracutaneous anomalies is essential for all infants with facial or periorbital infantile hemangiomas, irrespective of size.
- The findings underscore the need for vigilance regarding PHACES-like anomalies even in small hemangiomas.
- Further research is required to elucidate the link between cerebrovascular anomalies and hemangioma characteristics.
Abstract:
OBJECTIVE. PHACES syndrome includes posterior fossa malformations, hemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye abnormalities, and sternal defect with or without supraumbilical raphe. Usually, brain imaging is performed when facial hemangiomas are larger than 5 cm. Data on associated anomalies regardless of hemangioma size are sparse. The objective of this study was to determine, first, the prevalence of PHACES-like associated anomalies in a large sample of infants with all sizes of segmental facial or periorbital focal infantile hemangioma and, second, whether the cutaneous localization of the hemangioma correlates with the type of anomalies present. MATERIALS AND METHODS. The records of all patients of a vascular anomalies practice who had a diagnosis of segmental facial or periorbital focal infantile hemangioma and who had clinical photographs and brain MRI available were reviewed. The clinical photographs were reviewed to determine the localization by segment and lateralization. MRI was reviewed by two experienced pediatric radiologists. If present, cardiovascular anomalies, sternal defects, and eye anomalies were recorded. The criteria for definite and possible PHACES were used. RESULTS. The study included 122 children (90 girls, 32 boys; mean age, 16.6 months). Forty-five (36.9%) children had a facial infantile hemangioma larger than 5 cm. Twenty-two patients (18.0%) had PHACES or possible PHACES syndrome. Cerebrovascular structural anomalies were seen in 14 of 22 and brain anomalies in 6 of 22 patients with PHACES syndrome but in none and one of the patients in the group without PHACES (p < .001). Cardiovascular anomalies were seen in six patients and ocular anomalies in eight patients. All but one of them had PHACES syndrome. CONCLUSION. Clinical concern about associated extracutaneous anomalies is warranted for all children with facial segmental or periorbital focal infantile hemangiomas, including those with small hemangiomas. Further studies are needed to correlate cerebrovascular anomalies with the clinical evolution of hemangiomas and their effects on cerebral perfusion.
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