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
Age: 9 years old
Gender: Male
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Marked diffuse arterial tortuosity. Arterial aneurysm of the hepatic artery in the liver hilum.
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Marked diffuse arterial tortuosity, including of the aortic arch. Severe scoliosis. Marked left atrial dilatation.
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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.