PHACES syndrome with congenital hypothyroidism.
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.
Ghosh
Apurba
A
Institute of Child Health, Kolkata 700032, West Bengal. apurbaghosh@yahoo.com
Tibrewal
Shiv Ratan
SR
Thapa
Rajoo
R
D000015:Abnormalities, Multiple; D003409:Congenital Hypothyroidism / Q000150:complications*; D003616:Dandy-Walker Syndrome / Q000150:complications; D005153:Facial Neoplasms / Q000150:complications; D005260:Female; D006391:Hemangioma / Q000150:complications; D006801:Humans; D007231:Infant, Newborn; D008046:Lip / Q000002:abnormalities; D013577:Syndrome