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

Prabha Sinha; Shabnum Sibtain

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dc.contributor.author	Prabha Sinha
dc.contributor.author	Shabnum Sibtain
dc.date.accessioned	2020-07-24T08:43:53Z
dc.date.available	2020-07-24T08:43:53Z
dc.date.issued	2020-07-01
dc.identifier.issn	2220-7562
dc.identifier.uri	http://hdl.handle.net/123456789/9341
dc.description.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	en_US
dc.description.sponsorship	JBUMDC	en_US
dc.language.iso	en	en_US
dc.publisher	Bahria University Medical and Dental College Karachi	en_US
dc.relation.ispartofseries	10;03
dc.subject	Joubert syndrome, mortality, genetic disorder, brain malformation	en_US
dc.title	Joubert Syndrome Diagnosed at 16+6 Weeks Gestation and Molar Tooth Sign by 3D Modality	en_US
dc.type	Article	en_US