PHACE/S syndrome: a syndromic infantile segmental hemangioma.
PHACES syndrome is a neurocutaneous disorder characterized by posterior fossa brain malformations, hemangiomas, cardiac anomalies and coarctation of aorta, eye anomalies ± sternal clefts. All reported cases are sporadic and notably common in females. The underlying cause is unknown. Here is described, one of the twin baby with characteristic features of PHACE syndrome. The presence of large segmental hemangioma, especially on face should prompt the primary care provider to act early, to prevent complications related to facial hemangiomas and other associated anomalies.
Department of Medical Genetics, Narayana Hrudayalaya Institute of Medical Sciences, Bangalore, Karnataka, India. drsjpatil@gmail.com
Siddram J
SJ
Patil
Amol A
AA
Moray
Viralam S
VS
Kiran
Ravindra R
RR
Battu
D001017:Aortic Coarctation / Q000175:diagnosis*; D004200:Diseases in Twins; D005124:Eye Abnormalities / Q000175:diagnosis*; D005260:Female; D006391:Hemangioma / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D020752:Neurocutaneous Syndromes / Q000175:diagnosis*; D012878:Skin Neoplasms / Q000175:diagnosis*