Joubert syndrome

Sosa Olavarría, A, MD

Perinatology, Carabobo University, Valencia – Venezuela

Prenatal scan of a fetus with Joubert syndrome. Note the cerebellum with partial agenesis of the vermis, fetal profile with prominent upper lips, anomaly of the ear, atrial and ventricular septal defects with abnormal ductus venosus waves, neonatal cerebellum images an newborn aspect with sandal-gap.

Cerebellum with partial agenesis of the vermis

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cerebellum
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Fetal profile with prominent upper lips and anomaly of the ear

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Atrial and ventricular septal defects with abnormal ductus venosus waves

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Newborn with sandal-gap

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