Presentation
Polymalformative syndrome with hypertelorism, anti-mongoloid slanted eyelids, retrognatism, low set ears, posterior cleft palate (operated), joint laxity, reccurent diaphragmatic hernia (operated), umbilical hernia and severe congenital scoliosis.
Patient Data
Marked diffuse arterial tortuosity. Arterial aneurysm of the hepatic artery in the liver hilum.
Marked diffuse arterial tortuosity, including of the aortic arch. Severe scoliosis. Marked left atrial dilatation.
Marked tortuosity and mild dilatation mainly of the extracranial carotid and vertebral arteries.
Hypertelorism.
Case Discussion
Confirmed Loeys-Dietz syndrome due to a de novo TGFBR2 mutation.