Global Variome shared LOVD

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Phenotype #0000315736 Individual ID 00424540 Associated disease EDSVASC Phenotype details Patient positive for aortic dissection, carotid-cavernous sinus fistula, easy bruising, thin/translucent skin, characteristic facial features, gingival recession/fragility and keratoconus. Patient developed a right carotid-cavernous sinus fistula at age 47 years, which was treated with coil embolization. During the procedure, a left internal carotid artery dissection occurred and was treated with stent placement. Asymptomatic bilateral external iliac artery dissection and right colic artery dissection were found on thoracoabdominal CT angiography. At age 53 years, coil embolization was performed three times for the recurrent left carotid-cavernous sinus fistula. Diagnosis/Initial - Inheritance Unknown Diagnosis/Definite - Age/Examination 54y (54 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Oumaima Nehaili Database submission license Creative Commons Attribution-ShareAlike 4.0 International Created by Oumaima Nehaili Date created 2022-11-20 17:55:12 +01:00 (CET) Date last edited 2025-01-23 20:03:11 +01:00 (CET)

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