Joubert Syndrome Diagnosed at 16+6 Weeks Gestation and Molar Tooth Sign by 3D Modality
Issue Details
| Journal ID | 1 |
|---|---|
| Volume | 10 |
| Number | 3 |
| Year | 2020 |
| Issue Date | 2020-09-08 00:00:00 |
| DOI | 10.51985/JBUMDC2020024 |
| Copyright Holder | Prabha Sinha, Shabnum Sibtain |
| Copyright Year | 2020 |
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
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
Published: 2021-03-18
Last Modified: 2022-02-21 00:29:17