Open AccessJoubert Syndrome Diagnosed at 16+6 Weeks Gestation and Molar Tooth Sign by 3D Modality
Author(s) -
Preema Sinha,
Shabnum Sibtain
Publication year - 2020
Publication title -
the journal of bahria university medical and dental college
Language(s) - English
Resource type - Journals
eISSN - 2617-9482
pISSN - 2220-7562
DOI - 10.51985/jbumdc2020024
Subject(s) - joubert syndrome , medicine , gestation , gestational age , molar , sign (mathematics) , pediatrics , anatomy , pregnancy , orthodontics , biology , genetics , mathematical analysis , mathematics , cilium
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.