Joubert Syndrome Diagnosed at 16+6 Weeks Gestation and Molar Tooth Sign by 3D Modality

Prabha Sinha
Shabnum
Keywords:
Abstract:

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

Author Biographies:
Prabha Sinha

Shabnum


Date Published: 2021-03-18

Last Modified: 2022-02-21 00:29:17