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CASE REPORT
Year : 2019  |  Volume : 12  |  Issue : 6  |  Page : 524-528

PHACES syndrome – A rare case report


Department of Ophthalmology, JNU Medical College and Research Institute, Jaipur, Rajasthan, India

Correspondence Address:
Sujit Das
Department of Ophthalmology, JNU Medical College and Research Institute, Jaipur - 302 017, Rajasthan
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/mjdrdypu.mjdrdypu_151_18

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PHACES syndrome stands for posterior fossa malformations–hemangioma–arterial anomalies–cardiac defects–eye abnormalities–sternal cleft all together known as “PHACES syndrome.” It is a rare cutaneous condition characterized by multiple congenital abnormalities. It affects girls nine times more often than boys. A 3-year-old girl presented with hemangioma of the face, palate, lips, and eyelids and developmental delay associated with seizure episodes. In the ocular examination, congenital cataract, choroidal coloboma, and optic disc hypoplasia were seen. Systemically, there were sternal cleft, ventricular septal defect, and posterior fossa arachnoid cyst and central nervous system vascular abnormalities. Diagnosis was made from systemic examination and ocular examination along with imaging study of the head and chest. PHACES syndrome needs to be managed by a multidisciplinary team of experts such as cardiologist, ophthalmologist, neurologist, and neurosurgeon. Every child with PHACES syndrome should be evaluated for glaucoma and associated pituitary function at each visit.


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