title: PHACE syndrome and congenitally absent thyroid gland at MR imaging.
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.
authors.affiliation: Department 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. Electronic address: mark.d.mamlouk@kp.org.
authors.forename: Mark D
authors.initials: MD
authors.lastname: Mamlouk
authors.affiliation: Department of Radiology and Biomedical Imaging, University of California, San Francisco, 505 Parnassus Avenue, L352, San Francisco, CA 94143; Department of Radiology, University of Wisconsin School of Medicine and Public Health, E3/366 Clinical Science Center, 600 Highland Avenue, M/C 3252, Madison, WI 53792.
authors.forename: John-Paul J
authors.initials: JP
authors.lastname: Yu
authors.affiliation: Department of Dermatology, University of California, San Francisco, 1701 Divisadero Street, Third Floor, San Francisco, CA 94115; Department of Dermatology, Mayo Clinic, 200 First Street Southwest, Rochester, MN 55905.
authors.forename: Sarah
authors.initials: S
authors.lastname: Asch
authors.affiliation: Department of Dermatology, University of California, San Francisco, 1701 Divisadero Street, Third Floor, San Francisco, CA 94115.
authors.forename: Erin F
authors.initials: EF
authors.lastname: Mathes
mesh_terms: D001017:Aortic Coarctation / Q000473:pathology*; D005124:Eye Abnormalities / Q000473:pathology*; D005260:Female; D006391:Hemangioma / Q000473:pathology*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D020752:Neurocutaneous Syndromes / Q000473:pathology*; D012878:Skin Neoplasms / Q000473:pathology*; D013961:Thyroid Gland / Q000002:abnormalities / Q000473:pathology*
keywords: Hypothyroidism; Magnetic resonance imaging; PHACE; Vascular anomalies