Genetic Basis of PHACES

Clinical Investigator:

Dawn Siegel, MD
Assistant Professor Dermatology and Pediatrics

Oregon Health & Science University

IRB# 3875

Condition being studied: PHACE (S) syndrome- this is defined as Posterior fossa and other brain malformations, Hemangiomas (typically facial segmental), Arterial anomalies, Coarctation of the aorta and other cardiac defects, Eye abnormalities (e.g. microphthalmia, optic nerve hypoplasia) and Sternal malformations, supraumbilical raphe.

Criteria used to determine eligibility: Subjects with a facial hemangioma plus at one additional feature may enroll in this study.

Benefits: You will not personally benefit from participating in this study.  However, by serving as a subject, you may contribute new information which may benefit patients in the future.

Burdens: If the results of these studies of your genetic makeup were to be released through a breach of confidentiality, this could affect your ability to get insurance or to get or keep a job. Blood drawing will cause some pain and carries a small risk of bleeding, bruising or infection at the puncture site. Some of the questions asked for this study may seem very personal or embarrassing.  A buccal swab or saliva collection will be taken which may cause some discomfort or a sensation of a dry mouth. There will be no payment for enrolling in this study.

Time commitment: Approximately 15 minutes for the blood draw and buccal swab or saliva collection and 15 minutes to complete the surveys.

Location research being conducted:

Oregon Health & Science University

Contact information:

Dawn Siegel, MD

Mail Code: CH16D

3303 SW Bond Ave.

Portland, OR 97239

Office: (503) 346-0029

siegeld@ohsu.edu

This study was formerly being done in conjunction with UCSF and Dr. Ilonia Frieden.

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PHACES has a varied presentation- NOVA is dedicated to assisting all affected by PHACES

NOVA PROVIDES THIS INFORMATION TO FAMILIES AS A RESOURCE. IT IS NOT INTENDED TO ENGAGE IN THE PRACTICE OF MEDICINE OR TO REPLACE THE PHYSICIAN. NOVA DOES NOT CLAIM TO HAVE MEDICAL KNOWLEDGE. NOVA DOES NOT ENDORSE ANY PARTICULAR PHYSICIAN, TREATING FACILITY OR TREATMENT PROTOCAL. IN ALL CASES NOVA AND ITS BOARD OF DIRECTORS RECOMMENDS THAT YOU SEEK THE OPINION OF A PHYSICIAN EXPERIENCED IN THE MANAGEMENT OF HEMANGIOMAS AND VASCULAR MALFORMATIONS. 

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