期刊
NEURORADIOLOGY
卷 46, 期 3, 页码 227-233出版社
SPRINGER
DOI: 10.1007/s00234-002-0902-z
关键词
PHACES syndrome; Dandy-Walker syndrome; haemangiomas; arterial anomalies
PHACE and PHACES are acronyms for a syndrome of variable expression comprising posterior cranial fossa malformations, facial haemangiomas, arterial anomalies, aortic coarctation and other cardiac disorders, ocular abnormalities and stenotic arterial disease. We review five girls and three boys aged 1 month-14 years with disorders from this spectrum. Six had large facial haemangiomas but recent reports suggest that small haemangiomas may occur; hence our inclusion of two possible cases. We also focus on the recently recognised feature of progressive intracranial arterial occlusions, present in four of our patients, later than previously recognised, from 4 to 14 years of age. We suggest that many elements of this disorder could reflect an abnormality of cell proliferation and apoptosis.
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