Facial Dysmorphology and Odontogenic Tumor Development Associated With Inborn Errors of Metabolism: A Case Report and Review of Literature

Abstract

Inborn errors of metabolism encompass a large group of inherited genetic disorders that alter normal physiological functioning. Due to mandated newborn screening tests, most of these disorders are identified in the neonatal period. The majority of these metabolic disturbances are secondary to enzymatic deficiency, and their presence can often make for difficult perioperative medical management. Certain inborn errors of metabolism have been associated with characteristic dysmorphic facial features, although literature is lacking on any relationship between these genetic disorders and tumors of odontogenic origin. As such, our paper outlines a case involving a 5 year old male with 3-Methylcrotonyl-CoA Carboxylase (3-MCC) deficiency and a facial asymmetry found to be secondary to an odontogenic myxoma of the maxillary sinus. A review of the literature describing the association between inborn errors of metabolism and facial dysmorphology is provided, as well as perioperative management for this specific metabolic disorder.