257 - Dental Manifestations of Trisomy 8 Mosaicism: A Case Report

Abstract: Trisomy 8 mosaicism, also known as Warkany Syndrome 2, is an autosomal genetic disorder in which some cells of the body contain a third copy of chromosome 8. It occurs in approximately 1:25,000-50,000 births with a strong male predilection. Trisomy 8 mosaicism can manifest in a variety of structural and systemic abnormalities ranging from mild to severe, including distinct facial features, cardiac and renal anomalies, and intellectual disability. The few reports detailing oral manifestations of Trisomy 8 mosaicism have highlighted findings including cleft lip and palate, high arched palate, and micrognathia, though there are limited descriptions of dental anomalies.

This case report discusses a 10 year old male with Trisomy 8 mosaicism who presented to University Hospitals Rainbow Babies and Children’s Hospital for routine comprehensive oral rehabilitation under general anesthesia. The patient displayed many characteristic features of Trisomy 8 mosaicism including cardiac, renal, and vertebral malformations. Notably, his dental exam revealed impacted permanent first molars. This report will describe dental anomalies associated with a case of Trisomy 8 mosaicism as well as the dental treatment rendered to improve patient outcomes.

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