title: Facial dysmorphology and odontogenic tumor development associated with inborn errors of metabolism: a case report.
abstract: OBJECTIVE
  Inborn errors of metabolism (IEMs) are genetic disorders that alter normal physiologic functioning. Deficiency of 3-methylcrotonyl-coenzyme A carboxylase is one such IEM that can lead to major episodes of metabolic dysfunction. Certain IEMs are associated with characteristic congenital dysmorphic facial features. This can be problematic, because these dysmorphisms can mask underlying tumor growth. Literature is lacking on a causal relation between IEM and odontogenic tumor development.
  
  
  METHODS
  This case was explained in detail and a review of the literature was undertaken. PubMed was used to search for articles involving surgical management of odontogenic myxoma (OM) and associations between odontogenic tumors and IEM.
  
  
  RESULTS
  It was determined that the development of odontogenic tumors, specifically OM, is associated with IEMs. These tumors can easily be overlooked as a common dysmorphic feature of an IEM.
  
  
  CONCLUSIONS
  IEMs lead to major metabolic disturbances and, thus, can alter the cellular microenvironment. Hypothetically, these alterations can lead to the development of odontogenic tumors. With the diagnosis of IEM becoming more common owing to improved newborn screening, careful attention should be given to these patients because of the possibility that dysmorphologic facial features could be masking underlying tumor growth.
authors.affiliation: Resident, Department of Oral and Maxillofacial Surgery, Thomas Jefferson University Hospital, Philadelphia, PA. Electronic address: karl.bruckman@jeffersonhospital.org.
authors.forename: Karl C
authors.initials: KC
authors.lastname: Bruckman
authors.affiliation: Division Chief, Department of Pediatric Plastic Surgery, Nemours/Alfred I duPont Hospital for Children, Wilmington, DE.
authors.forename: Joseph A
authors.initials: JA
authors.lastname: Napoli
authors.affiliation: Chairman and Professor, Department of Oral and Maxillofacial Surgery, Thomas Jefferson University Hospital, Philadelphia, PA.
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Diecidue
authors.affiliation: Associate Professor, Department of Oral and Maxillofacial Surgery, Thomas Jefferson University Hospital, Philadelphia, PA.
authors.forename: Lionel
authors.initials: L
authors.lastname: Gold
mesh_terms: D002675:Child, Preschool; D005145:Face / Q000002:abnormalities* / Q000473:pathology*; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000473:pathology* / Q000601:surgery; D009808:Odontogenic Tumors / Q000150:complications / Q000473:pathology* / Q000601:surgery