Joubert Syndrome Diagnosed at 16+6 Weeks Gestation and Molar Tooth Sign by 3D Modality
DOI:
https://doi.org/10.51985/JBUMDC2020024Keywords:
Joubert syndrome, mortality, genetic disorder, brain malformationAbstract
Joubert’s syndrome is a rare genetic disorder. It is an autosomal recessive neuro-developmental disorder involving mid
and hind brain. This report describes a fetus at gestational age 16weeks+ 6 days, who presented with characteristic Molar
tooth sign on the antenatal scan. This sign is a salient feature of Joubert syndrome (JS). Mostly the diagnosis of JS is made
after birth. Few cases are diagnosed prenatally by ultrasound
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