PHACE syndrome and congenitally absent thyroid gland at MR imaging

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• 作者：Mark D. Mamlouk^a ; ^b ; ^{mark.d.mamlouk@kp.org" class="auth_mail" title="E-mail the corresponding author} ; ^{mark.mamlouk@ucsf.edu" class="auth_mail" title="E-mail the corresponding author} ; John-Paul J. Yu^a ; ^c ; Sarah Asch^d ; ^e ; Erin F. Mathes^d
• 关键词：Magnetic resonance imaging ; Vascular anomalies ; PHACE ; Hypothyroidism
• 刊名：Clinical Imaging
• 出版年：2016
• 出版时间：March-April 2016
• 年：2016
• 卷：40
• 期：2
• 页码：237-240
• 全文大小：677 K

文摘

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.