PHACES syndrome with congenital hypothyroidism.

ABSTRACT

The acronym PHACE syndrome stands for Posterior fossa malformations, Hemangiomas, Arterial anomalies, Coarctation of the aorta and other cardiac defects, Eye abnormalities, Sternal clefting and/or a supraumbilical raphe. We report a 20 day old neonate who presented with a large facial hemangioma and Dandy-Walker cyst. This case is unusual because the cyst was detected antenatally and there was associated congenital hypothyroidism, which has been described very rarely with this condition.