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A Phenotypic Assessment Tool for Craniofacial Microsomia

Birgfeld, Craig B. M.D.; Luquetti, Daniela V. M.D., Ph.D.; Gougoutas, Alexander J. M.D.; Bartlett, Scott P. M.D.; Low, David W. M.D.; Sie, Kathy C. Y. M.D.; Evans, Kelly N. M.D.; Heike, Carrie L. M.D., M.S.

Plastic and Reconstructive Surgery: January 2011 - Volume 127 - Issue 1 - p 313-320
doi: 10.1097/PRS.0b013e3181f95d15
Pediatric/Craniofacial: Original Articles
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Background: Craniofacial microsomia is one of the most common conditions treated by craniofacial teams. However, research regarding the cause of this condition or the surgical outcomes of treatment is scant. This is attributable to the lack of diagnostic criteria and the wide phenotypic spectrum. Standardized description of the craniofacial malformations associated with craniofacial microsomia is a necessary first step for multicenter, interdisciplinary research into this complex condition.

Methods: The authors used the previously published pictorial Orbit, Mandible, Ear, Nerve, and Soft tissue–Plus classification scheme to assign a phenotypic severity score to patients with craniofacial microsomia treated at the Craniofacial Center at Seattle Children's Hospital. The authors modified the tool based on feedback from multidisciplinary focus groups. The authors also developed a standardized photographic protocol to facilitate assessment of patients using two-dimensional images.

Results: Feedback from focus groups was synthesized to create a phenotypic assessment tool for craniofacial microsomia based on the pictorial Orbit, Mandible, Ear, Nerve, and Soft tissue–Plus classification system. This tool allows for more comprehensive description of the phenotype of craniofacial microsomia and is found to be effective for clinical use within a multidisciplinary craniofacial team. In addition, the photographic protocol for patients with craniofacial microsomia allows for classification from a two-dimensional photographic database, thereby facilitating research using archived photographs.

Conclusions: The phenotypic assessment tool for craniofacial microsomia protocol provides a simple and standardized method for practitioners and researchers to classify patients with craniofacial microsomia. We anticipate that this tool can be used in multicenter investigational studies to evaluate the cause of this condition, its natural history, and comparative effectiveness research.

Seattle, Wash.; and Philadelphia, Pa.

From the Division of Plastic Surgery, Department of Surgery, University of Washington, Seattle Children's Hospital, and Children's Hospital of Philadelphia.

Received for publication June 9, 2010; accepted July 20, 2010.

Disclosure:The authors have no financial interest to declare in relation to the content of this article.

Craig B. Birgfeld, M.D.; Division of Plastic Surgery; Department of Surgery; University of Washington; Seattle Children's Hospital; 4800 Sand Point Way; Seattle, Wash. 98105; craig.birgfeld@seattlechildrens.org

©2011American Society of Plastic Surgeons