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Published on: September 28, 2022
PHACE syndrome and congenitally absent thyroid gland at MR imaging
Mark D Mamlouk1, John-Paul J Yu2, Sarah Asch3
1Department of Radiology and Biomedical Imaging, University of California, San Francisco, 505 Parnassus Avenue, L352, San Francisco, CA 94143; The Permanente Medical Group, Kaiser Permanente Medical Center, Santa Clara, 700 Lawrence Expy, Santa Clara, CA 95051.
Abstract:
PHACE syndrome is a rare neurocutaneous disorder characterized by posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, and abnormalities of the eye. Thyroid disorders associated with PHACE syndrome have been described, although there are limited reports of this rare occurrence. We report a case of PHACE syndrome with congenital hypothyroidism in an infant, for which absent thyroid gland was diagnosed at magnetic resonance imaging.
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