title: Characterizing facial features in individuals with craniofacial microsomia: A systematic approach for clinical research.
abstract: BACKGROUND
  Craniofacial microsomia (CFM) is a congenital condition with wide phenotypic variability, including hypoplasia of the mandible and external ear. We assembled a cohort of children with facial features within the CFM spectrum and children without known craniofacial anomalies. We sought to develop a standardized approach to assess and describe the facial characteristics of the study cohort, using multiple sources of information gathered over the course of this longitudinal study and to create case subgroups with shared phenotypic features.
  
  
  METHODS
  Participants were enrolled between 1996 and 2002. We classified the facial phenotype from photographs, ratings using a modified version of the Orbital, Ear, Mandible, Nerve, Soft tissue (OMENS) pictorial system, data from medical record abstraction, and health history questionnaires.
  
  
  RESULTS
  The participant sample included 142 cases and 290 controls. The average age was 13.5 years (standard deviation, 1.3 years; range, 11.1-17.1 years). Sixty-one percent of cases were male, 74% were white non-Hispanic. Among cases, the most common features were microtia (66%) and mandibular hypoplasia (50%). Case subgroups with meaningful group definitions included: (1) microtia without other CFM-related features (n = 24), (2) microtia with mandibular hypoplasia (n = 46), (3) other combinations of CFM- related facial features (n = 51), and (4) atypical features (n = 21).
  
  
  CONCLUSIONS
  We developed a standardized approach for integrating multiple data sources to phenotype individuals with CFM, and created subgroups based on clinically-meaningful, shared characteristics. We hope that this system can be used to explore associations between phenotype and clinical outcomes of children with CFM and to identify the etiology of CFM. Birth Defects Research (Part A) 106:915-926, 2016.© 2016 Wiley Periodicals, Inc.
authors.affiliation: Seattle Children's Hospital, Craniofacial Center, Seattle, Washington.|Seattle Children's Research Institute, Seattle, Washington.|University of Washington, Department of Pediatrics, Seattle, Washington.
authors.forename: Carrie L
authors.initials: CL
authors.lastname: Heike
authors.affiliation: Seattle Children's Research Institute, Seattle, Washington.
authors.forename: Erin
authors.initials: E
authors.lastname: Wallace
authors.affiliation: Seattle Children's Hospital, Craniofacial Center, Seattle, Washington.|Seattle Children's Research Institute, Seattle, Washington.|University of Washington, Department of Psychiatry & Behavioral Sciences, Seattle, Washington.
authors.forename: Matthew L
authors.initials: ML
authors.lastname: Speltz
authors.affiliation: Seattle Children's Hospital, Craniofacial Center, Seattle, Washington.|Seattle Children's Research Institute, Seattle, Washington.
authors.forename: Babette
authors.initials: B
authors.lastname: Siebold
authors.affiliation: Boston University, Epidemiology, Boston, Massachusetts.|Slone Epidemiology Center, Boston, Massachusetts.
authors.forename: Martha M
authors.initials: MM
authors.lastname: Werler
authors.affiliation: Seattle Children's Hospital, Craniofacial Center, Seattle, Washington.|Seattle Children's Research Institute, Seattle, Washington.|University of Washington, Department of Pediatrics, Seattle, Washington.
authors.forename: Anne V
authors.initials: AV
authors.lastname: Hing
authors.affiliation: Seattle Children's Hospital, Craniofacial Center, Seattle, Washington.|Seattle Children's Research Institute, Seattle, Washington.|University of Washington, Department of Surgery, Seattle, Washington.
authors.forename: Craig B
authors.initials: CB
authors.lastname: Birgfeld
authors.affiliation: Seattle Children's Hospital, Craniofacial Center, Seattle, Washington.|Seattle Children's Research Institute, Seattle, Washington.|University of Washington, Department of Psychiatry & Behavioral Sciences, Seattle, Washington.
authors.forename: Brent R
authors.initials: BR
authors.lastname: Collett
authors.affiliation: University of Washington, Department of Oral Health Sciences, Seattle, Washington.|University of Washington, Department of Biostatistics, Seattle, Washington.
authors.forename: Brian G
authors.initials: BG
authors.lastname: Leroux
authors.affiliation: Seattle Children's Hospital, Craniofacial Center, Seattle, Washington.|Seattle Children's Research Institute, Seattle, Washington.|University of Washington, Department of Pediatrics, Seattle, Washington.
authors.forename: Daniela V
authors.initials: DV
authors.lastname: Luquetti
mesh_terms: D000293:Adolescent; D002648:Child; D015331:Cohort Studies; D005145:Face / Q000002:abnormalities* / Q000473:pathology; D005260:Female; D006053:Goldenhar Syndrome / Q000145:classification* / Q000473:pathology*; D006801:Humans; D008297:Male
keywords: Goldenhar syndrome; birth defects; craniofacial microsomia; hemifacial microsomia; microtia; oculo-auriculo-vertebral spectrum