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PHACES syndrome with congenital hypothyroidism
Authors:Ghosh Apurba  Tibrewal Shiv Ratan  Thapa Rajoo
Affiliation:Institute of Child Health, Kolkata 700032, West Bengal. apurbaghosh@yahoo.com
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.
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