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Prenatal Ultrasonographic Molar Tooth Sign: Case Reports and Review of Literature

  • Original Article
  • Published:
Journal of Fetal Medicine

Abstract

Joubert Syndrome and Related Disorders (JSRD) refers to all disorders presenting as “molar tooth sign” (MTS) on brain imaging. Fetuses with JSRD present with relatively nonspecific signs on prenatal ultrasound varying from increased nuchal translucency, enlarged cisterna magna, cerebellar vermian agenesis, occipital encephalocele, ventriculomegaly, renal disease and polydactyly. However, the hallmark sign in the diagnosis is MTS and MRI is the imaging modality of choice. We report two cases in which MTS was identified on prenatal ultrasound at 22 and 21 weeks (wk) of gestational age respectively. The other prenatal findings on ultrasound included polydactyly and anteroposteriorly enlarged 4th ventricle and vermian hypoplasia in both, and, aortic stenosis evolving to hypoplastic left heart in the former. Prenatal MRI was not done. Amniocentesis was done in the one with associated cardiac anomaly which was reported as normal. In both cases, the couple opted for termination of pregnancy and declined fetal autopsy and further mutation analysis. Only a few cases of JSRD diagnosed on prenatal ultrasound, have been reported. Due to the autosomal recessive inheritance (with 25% recurrence) JSRD has to be differentiated from Dandy-Walker malformation and cranio-cerebello-cardiac syndrome. As definitive prenatal genetic testing may not be conclusive in Joubert syndrome (JBTS) due to the large number of pathogenic variants and genetic heterogenicity, the ability to identify the MTS sonographically early provides a valuable adjunct to prenatal diagnosis.

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Authors and Affiliations

  1. Division of Fetal Medicine and Perinatology, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, 682041, India

    Rinshi Abid Elayedatt, Basil Mathew & Vivek Krishnan

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  1. Rinshi Abid Elayedatt
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  2. Basil Mathew
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Correspondence to Rinshi Abid Elayedatt.

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Elayedatt, R.A., Mathew, B. & Krishnan, V. Prenatal Ultrasonographic Molar Tooth Sign: Case Reports and Review of Literature. J. Fetal Med. 8, 21–26 (2021). https://doi.org/10.1007/s40556-021-00291-w

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