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

Prabha Sinha | Zendy; Shabnum Sibtain | Zendy

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

Author(s) -

Prabha Sinha,

Shabnum Sibtain

Publication year - 2020

Publication title -

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.

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