Hemifacial microsomia (oculo-auriculo-vertebral spectrum) in an individual from the Teramo Sant'Anna archaeological site (7th-12th centuries of the Common Era, Italy)

Arch Oral Biol. 2018 Jul:91:23-34. doi: 10.1016/j.archoralbio.2018.04.004. Epub 2018 Apr 6.

Abstract

Background: This study is based in an analysis of the skeletal remains of an adult male from the Teramo Sant'Anna archaeological site (7th-12th centuries of the Common Era, Teramo, Italy).

Results and discussion: The individual shows distinct abnormalities that principally involve asymmetric hypoplasia and dysmorphogenesis of the facial skeleton. The combination of these findings and the absence of abnormalities of the spine strongly suggest diagnosis of the congenital malformation known as hemifacial microsomia. This very heterogeneous syndrome affects primarily aural, ocular, oral and mandibular development. Despite the lack of clinical information and the absence of soft tissue, it was possible to perform a differential diagnosis for this palaeopathological case. Mastication was probably altered considering that the mandible is extremely asymmetric and lacks true condyles. The temporomandibular joints are present, but the right one is hypoplastic and abnormal in shape. There is evidence of bilateral dislocation, and the facial muscles are hypertrophic.

Conclusions: This case represents an important contribution to the palaeopathological literature because this is an uncommon condition that has not been widely documented in ancient skeletal remains.

Keywords: Aplasia/hypoplasia of mandibular condyles; Condyle dislocation; Congenital malformation complex; Facial asymmetry; Facial dysmorphogenesis; Palaeopathology.

Publication types

  • Historical Article

MeSH terms

  • Adult
  • Archaeology*
  • Dentition
  • Facial Asymmetry
  • Facial Bones / abnormalities
  • Facial Bones / pathology
  • Goldenhar Syndrome / diagnostic imaging
  • Goldenhar Syndrome / history*
  • Goldenhar Syndrome / pathology*
  • History, Medieval
  • Humans
  • Italy
  • Male
  • Mandible / pathology
  • Mandibular Condyle / abnormalities
  • Mandibular Condyle / pathology
  • Mastication
  • Masticatory Muscles / abnormalities
  • Middle Aged
  • Radiographic Image Enhancement
  • Skull / abnormalities*
  • Skull / diagnostic imaging
  • Skull / pathology
  • Temporomandibular Joint / abnormalities
  • Temporomandibular Joint / pathology