Evaluation of Research Diagnostic Criteria in Craniofacial Microsomia

Author:

Renkema Ruben W.1,de Vreugt V.1,Heike Carrie L.2,Padwa Bonnie L.3,Forrest Christopher R.4,Dunaway David J.5,Wolvius E.B.1,Caron Cornelia J.J.M.1,Koudstaal Maarten J.135

Affiliation:

1. The Dutch Craniofacial Center, Department of Oral and Maxillofacial Surgery, Erasmus University Medical Center, Sophia’s Children’s Hospital Rotterdam

2. Seattle Children’s Craniofacial Center, Seattle, WA

3. The Craniofacial Centre, Boston Children’s Hospital, Boston, MA

4. The Craniofacial Centre, the Hospital for Sick Kids, Toronto, Canada

5. The Craniofacial Unit, Great Ormond Street Hospital, London, UK

Abstract

Characteristics of patients with craniofacial microsomia (CFM) vary in type and severity. The diagnosis is based on phenotypical assessment and no consensus on standardized clinical diagnostic criteria is available. The use of diagnostic criteria could improve research and communication among patients and healthcare professionals. Two sets of phenotypic criteria for research were independently developed and based on multidisciplinary consensus: the FACIAL and ICHOM criteria. This study aimed to assess the sensitivity of both criteria with an existing global multicenter database of patients with CFM and study the characteristics of patients that do not meet the criteria. A total of 730 patients with CFM from were included. Characteristics of the patients were extracted, and severity was graded using the O.M.E.N.S. and Pruzansky-Kaban classification. The sensitivity of the FACIAL and ICHOM was respectively 99.6% and 94.4%. The Cohen’s kappa of 0.38 indicated a fair agreement between both criteria. Patients that did not fulfill the FACIAL criteria had facial asymmetry without additional features. It can be concluded that the FACIAL and ICHOM criteria are accurate criteria to describe patients with CFM. Both criteria could be useful for future studies on CFM to create comparable and reproducible outcomes.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine,Otorhinolaryngology,Surgery

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5. Craniofacial and extracraniofacial anomalies in craniofacial macrosomia: a multicenter study of 755 patients;Caron;J Craniomaxillofac Surg,2017

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