PHACES sendromu

Nedeni bilinmiyor

Kız çocuklarında görece belirgin

Gelişme geriliği

Mikroftalmi

Optik atrofi/hipoplazi

Konjenital katarakt

Yüz derisinde hemangioma (büyük)

Lingual tiroid

Kalp septum defektleri

Aorta koarktasyonu

A.carotis ve A.subclavia malformasyonları

Subglottik hemangioma

Sternum anomalisi

Serebral arter anomalileri

Beyin (posterior fossa) malformasyonları

Dandy-Walker malformasyonları

Epilepsi

Horner sendromu bulguları

 

• Metry DW, Haggstrom AN, Drolet BA, et al. A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. American Journal of Medical Genetics A, 140(9):975-986, 2006

• Puttgen KB, Lin DD. Neurocutaneous vascular syndromes.

• Child's Nervous System, 26(10):1407-1415, 2010

• Bracken J, Robinson I, Snow A, et al. PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients. Pediatric Radiology, 41: 1129-1138, 2011

• Brandon K, Burrows P, Hess C, Metry D. Arteriovenous malformation: a rare manifestation of PHACE syndrome. Pediatric Dermatology, 28(2):180-184, 2011

• Heyer GL. PHACE(S) syndrome. Handbook of Clinical Neurology, 132:169-183, 2015

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