title: Reliable classification of facial phenotypic variation in craniofacial microsomia: a comparison of physical exam and photographs.
abstract: BACKGROUND
  Craniofacial microsomia is a common congenital condition for which children receive longitudinal, multidisciplinary team care. However, little is known about the etiology of craniofacial microsomia and few outcome studies have been published. In order to facilitate large, multicenter studies in craniofacial microsomia, we assessed the reliability of phenotypic classification based on photographs by comparison with direct physical examination.
  
  
  METHODS
  Thirty-nine children with craniofacial microsomia underwent a physical examination and photographs according to a standardized protocol. Three clinicians completed ratings during the physical examination and, at least a month later, using respective photographs for each participant. We used descriptive statistics for participant characteristics and intraclass correlation coefficients (ICCs) to assess reliability.
  
  
  RESULTS
  The agreement between ratings on photographs and physical exam was greater than 80 % for all 15 categories included in the analysis. The ICC estimates were higher than 0.6 for most features. Features with the highest ICC included: presence of epibulbar dermoids, ear abnormalities, and colobomas (ICC 0.85, 0.81, and 0.80, respectively). Orbital size, presence of pits, tongue abnormalities, and strabismus had the lowest ICC, values (0.17 or less). There was not a strong tendency for either type of rating, physical exam or photograph, to be more likely to designate a feature as abnormal. The agreement between photographs and physical exam regarding the presence of a prior surgery was greater than 90 % for most features.
  
  
  CONCLUSIONS
  Our results suggest that categorization of facial phenotype in children with CFM based on photographs is reliable relative to physical examination for most facial features.
authors.affiliation: Division of Plastic Surgery, Department of Surgery, University of Washington, Seattle, WA, USA.|Craniofacial Center, Seattle Children's Hospital, Seattle, WA, USA.|Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA, USA.
authors.forename: Craig B
authors.initials: CB
authors.lastname: Birgfeld
authors.affiliation: Craniofacial Center, Seattle Children's Hospital, Seattle, WA, USA. carrie.heike@seattlechildrens.org.|Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA, USA. carrie.heike@seattlechildrens.org.|Department of Pediatrics, University of Washington, M/S OB.9.520, PO Box 5371 4800 Sand Point Way, Seattle, WA, 98105, USA. carrie.heike@seattlechildrens.org.
authors.forename: Carrie L
authors.initials: CL
authors.lastname: Heike
authors.affiliation: Craniofacial Center, Seattle Children's Hospital, Seattle, WA, USA.|Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA.
authors.forename: Babette S
authors.initials: BS
authors.lastname: Saltzman
authors.affiliation: Department of Biostatistics, School of Public Health and Oral Health Sciences, School of Dentistry, University of Washington, Seattle, WA, USA.
authors.forename: Brian G
authors.initials: BG
authors.lastname: Leroux
authors.affiliation: Craniofacial Center, Seattle Children's Hospital, Seattle, WA, USA.|Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA, USA.|Department of Pediatrics, University of Washington, M/S OB.9.520, PO Box 5371 4800 Sand Point Way, Seattle, WA, 98105, USA.
authors.forename: Kelly N
authors.initials: KN
authors.lastname: Evans
authors.affiliation: Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA, USA.|Department of Pediatrics, University of Washington, M/S OB.9.520, PO Box 5371 4800 Sand Point Way, Seattle, WA, 98105, USA.|Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA.
authors.forename: Daniela V
authors.initials: DV
authors.lastname: Luquetti
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006053:Goldenhar Syndrome / Q000145:classification*; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D010781:Photography; D010808:Physical Examination; D055815:Young Adult
keywords: Clinical research; Craniofacial; Craniofacial microsomia; Hemifacial microsomia; Image Protocol; Multicenter; PAT-CFM; Photographs; Physical exam; Reliability