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