Print ISSN: 2394-2746
Online ISSN: 2394-2754
CODEN : IJOGCS
Indian Journal of Obstetrics and Gynecology Research (IJOGR) open access, peer-reviewed quarterly journal publishing since 2014 and is published under auspices of the Innovative Education and Scientific Research Foundation (IESRF), aim to uplift researchers, scholars, academicians, and professionals in all academic and scientific disciplines. IESRF is dedicated to the transfer of technology and research by publishing scientific journals, research content, providing professional’s membership, and conducting conferences, seminars, and award more...Case Report
Author Details :
Volume : 9, Issue : 3, Year : 2022
Article Page : 435-437
https://doi.org/10.18231/j.ijogr.2022.084
Abstract
Joubert syndrome is a rare autosomal recessive inherited disease associated with many signs and symptoms. Joubert syndrome (JS) was first discovered by Marie Joubert in 1969. Joubert’s syndrome presents as low muscle tone (hypotonia), have difficulty coordinating movements (ataxia), have episodes of fast or slow breathing and abnormal eye movement (ocular motor apraxia). Developmental delay and intellectual disability generally accompany. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen. The main aim should be to diagnose these cases antenatally. Number of ultrasound features have been described which are indicator of possibility of Joubert’s syndrome. The confirmatory diagnosis then can be done by MRI. We describe a case of suspicious JS prenatally who had previous baby diagnosed as JS after termination at 20 weeks. We also discuss the antenatal diagnostic management of pregnancies who have a previous history or at high risk of Joubert’s syndrome.
Keywords: Joubert's syndrome, Autosomal disease, Molar tooth sign.
How to cite : Tyagi S, Bhagat S, Suspicious ultrasound markers of joubert syndrome can lead to early prenatal diagnosis. Indian J Obstet Gynecol Res 2022;9(3):435-437
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