title: Morning glory disk anomaly with ipsilateral capillary hemangioma, agenesis of the internal carotid artery, and Horner syndrome: a variant of PHACES syndrome?
abstract: We describe a 6-week-old girl with a right upper lid capillary hemangioma, ipsilateral morning glory disk anomaly, microphthalmos, Mittendorf dot, and Horner syndrome. The ipsilateral internal carotid artery was also found to be absent. To our knowledge, this is the first patient to be reported with this group of findings. We suggest that this represents an overlap between morning glory disk and intracranial vascular abnormalities, a recognized association, and PHACES syndrome (posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, eye, and sternal abnormalities). We discuss the common embryological basis for these abnormalities, which point to a widespread but highly variable disorder of mesodermal differentiation.
authors.affiliation: Department of Ophthalmology, University of British Columbia, BC's Children's Hospital, Vancouver, British Columbia, Canada.
authors.forename: Narman
authors.initials: N
authors.lastname: Puvanachandra
authors.forename: Manraj K
authors.initials: MK
authors.lastname: Heran
authors.forename: Christopher J
authors.initials: CJ
authors.lastname: Lyons
mesh_terms: D002343:Carotid Artery, Internal / Q000002:abnormalities* / Q000473:pathology; D005143:Eyelids / Q000098:blood supply*; D005260:Female; D005938:Glucocorticoids / Q000627:therapeutic use; D018324:Hemangioma, Capillary / Q000150:complications* / Q000188:drug therapy / Q000473:pathology; D006732:Horner Syndrome / Q000150:complications*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008775:Methylprednisolone / Q000627:therapeutic use; D008850:Microphthalmos / Q000150:complications; D009898:Optic Disk / Q000002:abnormalities* / Q000473:pathology; D013577:Syndrome; D014221:Triamcinolone / Q000627:therapeutic use
chemical_list: D005938:Glucocorticoids; D014221:Triamcinolone; D008775:Methylprednisolone