Microtia and Related Facial Anomalies

Clin Perinatol. 2018 Dec;45(4):679-697. doi: 10.1016/j.clp.2018.07.007. Epub 2018 Sep 18.


Infants may be born with external ear deformities or malformations that can present a diagnostic clue to an affiliated syndrome while also presenting the possibility of surgical intervention. Microtia is a malformation of the ear that is associated with other craniofacial or systemic anomalies in 50% of cases. Surgical correction of microtia and associated facial anomalies is complex and must be integrated thoughtfully into the overall care plan for children with complex medical needs. Familiarity with types of ear and facial anomalies and their association with more global concerns can allow perinatal practitioners to better serve their patients.

Keywords: Branchio-oto-renal syndrome; Facial anomaly; Goldenhar syndrome; Hemifacial microsomia; Macrostomia; Microtia; Nager syndrome; Treacher Collins syndrome.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / epidemiology
  • Abnormalities, Multiple / surgery*
  • Congenital Microtia / diagnosis
  • Congenital Microtia / epidemiology*
  • Congenital Microtia / surgery*
  • Craniofacial Abnormalities / diagnosis
  • Craniofacial Abnormalities / epidemiology*
  • Craniofacial Abnormalities / surgery*
  • Female
  • Follow-Up Studies
  • Goldenhar Syndrome / diagnosis
  • Goldenhar Syndrome / epidemiology
  • Goldenhar Syndrome / surgery
  • Humans
  • Infant, Newborn
  • Male
  • Plastic Surgery Procedures / methods*
  • Quality of Life
  • Risk Assessment
  • Treatment Outcome