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Systematic Assessment of Mammalian Skull Specimens for Dental and Temporomandibular Joint Pathology
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Early second-trimester molar tooth sign
Ori Shen1, Liat Ben-Sira, Daniel Rosenak
1Department of Radiology, Tel Aviv Medical Center, Tel Aviv, Israel.
Fetal Diagnosis and Therapy
|June 7, 2014
Summary
Molar tooth sign (MTS), a key indicator of Joubert syndrome, can be detected via ultrasound early in pregnancy. Early sonographic identification of MTS is crucial for families at risk of this genetic disorder.
Area of Science:
- Medical Imaging
- Genetics
- Prenatal Diagnosis
Background:
- Joubert syndrome (JS) is a rare genetic disorder.
- The molar tooth sign (MTS) is a characteristic brainstem malformation pathognomonic for JS.
Observation:
- MTS was suspected in a fetus at risk for JS at 16 weeks gestation via sonography.
- Further ultrasound at 18 weeks and MRI at 20 weeks confirmed the MTS.
- Molecular diagnosis of JS was established post-termination.
Findings:
- This case demonstrates the feasibility of early prenatal sonographic detection of MTS.
- The study highlights the utility of advanced imaging like MRI for confirmation.
Implications:
- Early identification of MTS via ultrasound can aid in timely diagnosis of JS.
- This is particularly important when genetic testing is not feasible.
- Enables informed decision-making for at-risk families.
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