Severity of oro-dental anomalies in Loeys-Dietz syndrome segregates by gene mutation

Rare diseases that have multisystemic involvements often feature oral and dental manifestations that are overlooked even though they may significantly affect patients’ quality of life. In this study, we thoroughly characterized the oro-dental anomalies in Loeys-Dietz syndrome, a rare disorder affecting the cardiovascular system. The most frequent anomalies include abnormal palate, short mandible and tooth enamel defects. Moreover, we show that the severity of these defects correlates with the genetic mutation causing the disease. This work will serve as a diagnostic tool, help health care providers devise optimal treatment plans and thus benefit the patients suffering from this rare disease. (By Dr. Priyam Jani, https://jmg.bmj.com/content/early/2020/03/08/jmedgenet-2019-106678 )

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