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Arterial tortuosity syndrome
A rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.
Blepharophimosis
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
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PMID (PMCID)