Suspicious ultrasound markers of joubert syndrome can lead to early prenatal diagnosis

Joubert syndrome is a rare autosomal recessive inherited disease associated with many signs and symptoms. (JS) was first discovered by Marie in 1969. Joubert’s presents as low muscle tone (hypotonia), have difficulty coordinating movements (ataxia), episodes of fast or slow breathing abnormal eye movement (ocular motor apraxia). Developmental delay intellectual disability generally accompany. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, endocrine abnormalities. Both intra- interfamilial variation are seen. The main aim should be to diagnose these cases antenatally. Number ultrasound features been described which indicator possibility syndrome. confirmatory diagnosis then done MRI. We describe case suspicious JS prenatally who had previous baby diagnosed after termination at 20 weeks. also discuss the antenatal diagnostic management pregnancies history high risk