A patient with Phelan‐McDermid syndrome and dilation of the great vessels

Abstract

Key Clinical Message We present a patient with Phelan‐McDermid syndrome, a rare neurodevelopmental disorder caused by a 22q13 deletion, with the previously undescribed finding of progressive dilation of the great arteries. While congenital heart defects have been identified in patients previously, dilation of the great arteries has not been described to our knowledge.

Keywords

• 9q34 duplication
• 22q13 deletion
• aortic dilation
• COL5A1 gene
• Phelan‐McDermid syndrome
• SHANK3 gene