Frequent genetic disorders associated with missing teeth and revisiting classification of anodontia: a retrospective study

Authors

Abstract

Background
Absence of teeth in the oral cavity is one of the most common dental abnormalities. Anodontia is a term used to describe congenitally missing teeth. It can manifest either as an isolated finding or as a part of a syndrome.
Aim
In this single-center 7-year retrospective study, we report and describe the most frequent genetic disorders associated with missing teeth in patients who presented to the outpatient clinic of Oro-dental Genetics Department at the National Research Center, Cairo, Egypt.
Methods
The recorded patients were classified into true anodontia and pseudoanodontia, which was further classified into primary pseudoanadontia and secondary pseudoanodontia.
Results and conclusions
The collected data showed that ectodermal dysplasia, followed by Ellis-van Creveld syndrome, was the most frequent disorder in the true anodontia group. Cleidocranial dysplasia was the most frequent disorder in the primary pseudoanodontia group, whereas Papillon–Lefèvre syndrome followed by congenital insensitivity to pain with anhidrosis and hypophosphatasia, was the most frequent genetic disorder in the secondary pseudoanodontia group.

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