Evaluation of maternal history of miscarriage, infertility, and in-vitro fertilization use as associated factors in PHACE

Abstract

The etiology of PHACE (Posterior fossa anomalies, Hemangioma, Arterial anomalies, Coarctation of the aorta, and Eye anomalies) is unknown. A genetic etiology has been proposed but there are no published reports of heritability in families of children with PHACE. PHACE has a female predominance although preliminary X-inactivation studies have not demonstrated significant skewing in affected female patients or their mothers.¹ Copy number variation studies have yet to identify a common pathogenic variant.

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